DOI: 10.1002/humu.20103. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1

10.1002/humu.20103

Crossref journal-article

Hindawi Limited

Human Mutation (98)

Bibliography

Zatkova, A., Messiaen, L., Vandenbroucke, I., Wieser, R., Fonatsch, C., Krainer, A. R., & Wimmer, K. (2004). Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. Human Mutation, 24(6), 491â501.

Authors 7

Andrea Zatkova (first)
Ludwine Messiaen (additional)
Ina Vandenbroucke (additional)
Rotraud Wieser (additional)
Christa Fonatsch (additional)
Adrian R. Krainer (additional)
Katharina Wimmer (additional)

References 60 Referenced 85

10.1136/jmg.40.6.e82 / J Med Genet by Ars (2003)
10.1074/jbc.270.6.2411 / J Biol Chem by Berget (1995)
10.1101/gad.5.3.389 / Genes Dev by Black (1991)
10.1016/S0968-0004(00)01549-8 / Trends Biochem Sci by Blencowe (2000)
10.1101/gad.997502 / Genes Dev by Caputi (2002)
10.1038/ng854 / Nat Genet by Cartegni (2002)
10.1038/nrg775 / Nat Rev Genet by Cartegni (2002)
10.1093/nar/gkg616 / Nucleic Acids Res by Cartegni (2003)
10.1016/0092-8674(90)90253-B / Cell by Cawthon (1990)
10.1007/s00439-003-1009-2 / Hum Genet by Colapietro (2003)
10.1021/bi9808058 / Biochemistry by Coleman (1998)
10.1086/514856 / Am J Hum Genet by Cooper (1997)
{'key': '10.1002/humu.20103-BIB13', 'first-page': '1248', 'volume': '3', 'author': 'Cote', 'year': '1997', 'journal-title': 'RNA'} / RNA by Cote (1997)
10.1073/pnas.98.3.938 / Proc Natl Acad Sci USA by Cote (2001)
10.1128/MCB.17.4.2143 / Mol Cell Biol by Coulter (1997)
10.1126/science.8430317 / Science by Dietz (1993)
10.1038/ng1094-183 / Nat Genet by Dietz (1994)
10.1128/MCB.11.12.6075 / Mol Cell Biol by Dominski (1991)
10.1128/MCB.12.5.2108 / Mol Cell Biol by Dominski (1992)
10.1073/pnas.96.10.5598 / Proc Natl Acad Sci USA by D'Souza (1999)
10.1086/342192 / Am J Hum Genet by Fackenthal (2002)
10.1086/302809 / Am J Hum Genet by Fahsold (2000)
10.1126/science.1073774 / Science by Fairbrother (2002)
10.1101/gad.1048803 / Genes Dev by Faustino (2003)
10.1073/pnas.221456898 / Proc Natl Acad Sci USA by Ferrari (2001)
10.1128/MCB.19.3.1640 / Mol Cell Biol by Gersappe (1999)
10.1101/gad.7.10.1926 / Genes Dev by Gontarek (1993)
10.1086/378819 / Am J Hum Genet by Gorlov (2003)
10.1017/S1355838200000960 / RNA by Graveley (2000)
10.1016/S0955-0674(00)00212-X / Curr Opin Cell Biol by Hastings (2001)
10.1016/S0092-8674(00)80542-5 / Cell by Hentze (1999)
10.1086/301715 / Am J Hum Genet by Hoffmeyer (1998)
1994. The neurofibromatoses: a clinical and pathogenetic overview. London: Chapman and Hall Medical. p 23-49. / The neurofibromatoses: a clinical and pathogenetic overview by Huson (1994)
10.1038/ng1207 / Nat Genet by Kashima (2003)
10.1101/gad.12.13.1998 / Genes Dev by Liu (1998)
10.1128/MCB.20.3.1063-1071.2000 / Mol Cell Biol by Liu (2000)
10.1038/83762 / Nat Genet by Liu (2001)
10.1016/S0092-8674(01)00202-1 / Cell by Maquat (2001)
10.1101/gad.1014502 / Genes Dev by Maquat (2002)
10.1007/s004390050590 / Hum Genet by Messiaen (1997)
10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N / Hum Mutat by Messiaen (2000)
10.1074/jbc.M211106200 / J Biol Chem by Mine (2003)
10.1128/MCB.19.4.2657 / Mol Cell Biol by Muro (1999)
10.1074/jbc.M212813200 / J Biol Chem by Pagani (2003a)
10.1093/hmg/ddg131 / Hum Mol Genet by Pagani (2003b)
10.1128/MCB.16.8.4014 / Mol Cell Biol by Ryan (1996)
10.1086/420794 / Am J Hum Genet by Schwarze (2004)
10.1172/JCI119757 / J Clin Invest by Shiga (1997)
10.1101/gad.6.8.1386 / Genes Dev by Siebel (1992)
10.1093/emboj/20.14.3821 / EMBO J by Stickeler (2001)
{'key': '10.1002/humu.20103-BIB51', 'first-page': '660', 'volume': '3', 'author': 'Valentine', 'year': '1997', 'journal-title': 'RNA'} / RNA by Valentine (1997)
10.1016/S1383-5742(98)00010-6 / Mutat Res by Valentine (1998)
10.1093/nar/29.13.e68 / Nucleic Acids Res by Vandenbroucke (2001)
10.1016/S0014-5793(02)02887-9 / FEBS Lett by Vandenbroucke (2002)
10.1016/0092-8674(90)90252-A / Cell by Viskochil (1990)
10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S / Hum Mutat by Vuillaumier-Barrot (1999)
10.1126/science.2134734 / Science by Wallace (1990)
10.1007/s004390051043 / Hum Genet by Wimmer (2000a)
10.1002/1098-1004(200007)16:1<90::AID-HUMU20>3.0.CO;2-J / Hum Mutat by Wimmer (2000b)
10.1093/jnen/61.10.896 / J Neuropathol Exp Neurol by Wimmer (2002)

Dates

Type	When
Created	20 years, 9 months ago (Nov. 12, 2004, 3:45 p.m.)
Deposited	2 years, 8 months ago (Dec. 29, 2022, 11:51 a.m.)
Indexed	1 year, 1 month ago (July 8, 2024, 7:10 p.m.)
Issued	21 years, 8 months ago (Jan. 1, 2004)
Published	21 years, 8 months ago (Jan. 1, 2004)
Published Online	21 years, 8 months ago (Jan. 1, 2004)
Published Print	20 years, 9 months ago (Dec. 1, 2004)

Funders 0

None

BibTeX

@article{Zatkova_2004, title={Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1}, volume={24}, ISSN={1098-1004}, url={http://dx.doi.org/10.1002/humu.20103}, DOI={10.1002/humu.20103}, number={6}, journal={Human Mutation}, publisher={Hindawi Limited}, author={Zatkova, Andrea and Messiaen, Ludwine and Vandenbroucke, Ina and Wieser, Rotraud and Fonatsch, Christa and Krainer, Adrian R. and Wimmer, Katharina}, year={2004}, pages={491–501} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2024,
        7,
        8
      ]
    ],
    "date-time": "2024-07-08T23:10:56Z",
    "timestamp": 1720480256008
  },
  "reference-count": 60,
  "publisher": "Hindawi Limited",
  "issue": "6",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            2015,
            9,
            1
          ]
        ],
        "date-time": "2015-09-01T00:00:00Z",
        "timestamp": 1441065600000
      },
      "content-version": "tdm",
      "delay-in-days": 4261,
      "URL": "http://doi.wiley.com/10.1002/tdm_license_1.1"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        2004,
        12
      ]
    ]
  },
  "DOI": "10.1002/humu.20103",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2004,
        11,
        12
      ]
    ],
    "date-time": "2004-11-12T20:45:52Z",
    "timestamp": 1100292352000
  },
  "page": "491-501",
  "source": "Crossref",
  "is-referenced-by-count": 85,
  "title": "Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1",
  "prefix": "10.1155",
  "volume": "24",
  "author": [
    {
      "given": "Andrea",
      "family": "Zatkova",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "Ludwine",
      "family": "Messiaen",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Ina",
      "family": "Vandenbroucke",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Rotraud",
      "family": "Wieser",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Christa",
      "family": "Fonatsch",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Adrian R.",
      "family": "Krainer",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Katharina",
      "family": "Wimmer",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "98",
  "published-online": {
    "date-parts": [
      [
        2004
      ]
    ]
  },
  "reference": [
    {
      "key": "10.1002/humu.20103-BIB1",
      "doi-asserted-by": "crossref",
      "first-page": "e82",
      "DOI": "10.1136/jmg.40.6.e82",
      "volume": "40",
      "author": "Ars",
      "year": "2003",
      "journal-title": "J Med Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB2",
      "doi-asserted-by": "crossref",
      "first-page": "2411",
      "DOI": "10.1074/jbc.270.6.2411",
      "volume": "270",
      "author": "Berget",
      "year": "1995",
      "journal-title": "J Biol Chem"
    },
    {
      "key": "10.1002/humu.20103-BIB3",
      "doi-asserted-by": "crossref",
      "first-page": "389",
      "DOI": "10.1101/gad.5.3.389",
      "volume": "5",
      "author": "Black",
      "year": "1991",
      "journal-title": "Genes Dev"
    },
    {
      "key": "10.1002/humu.20103-BIB4",
      "doi-asserted-by": "crossref",
      "first-page": "106",
      "DOI": "10.1016/S0968-0004(00)01549-8",
      "volume": "25",
      "author": "Blencowe",
      "year": "2000",
      "journal-title": "Trends Biochem Sci"
    },
    {
      "key": "10.1002/humu.20103-BIB5",
      "doi-asserted-by": "crossref",
      "first-page": "1754",
      "DOI": "10.1101/gad.997502",
      "volume": "16",
      "author": "Caputi",
      "year": "2002",
      "journal-title": "Genes Dev"
    },
    {
      "key": "10.1002/humu.20103-BIB6",
      "doi-asserted-by": "crossref",
      "first-page": "377",
      "DOI": "10.1038/ng854",
      "volume": "30",
      "author": "Cartegni",
      "year": "2002",
      "journal-title": "Nat Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB7",
      "doi-asserted-by": "crossref",
      "first-page": "285",
      "DOI": "10.1038/nrg775",
      "volume": "3",
      "author": "Cartegni",
      "year": "2002",
      "journal-title": "Nat Rev Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB8",
      "doi-asserted-by": "crossref",
      "first-page": "3568",
      "DOI": "10.1093/nar/gkg616",
      "volume": "31",
      "author": "Cartegni",
      "year": "2003",
      "journal-title": "Nucleic Acids Res"
    },
    {
      "key": "10.1002/humu.20103-BIB9",
      "doi-asserted-by": "crossref",
      "first-page": "193",
      "DOI": "10.1016/0092-8674(90)90253-B",
      "volume": "62",
      "author": "Cawthon",
      "year": "1990",
      "journal-title": "Cell"
    },
    {
      "key": "10.1002/humu.20103-BIB10",
      "doi-asserted-by": "crossref",
      "first-page": "551",
      "DOI": "10.1007/s00439-003-1009-2",
      "volume": "113",
      "author": "Colapietro",
      "year": "2003",
      "journal-title": "Hum Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB11",
      "doi-asserted-by": "crossref",
      "first-page": "15941",
      "DOI": "10.1021/bi9808058",
      "volume": "37",
      "author": "Coleman",
      "year": "1998",
      "journal-title": "Biochemistry"
    },
    {
      "key": "10.1002/humu.20103-BIB12",
      "doi-asserted-by": "crossref",
      "first-page": "259",
      "DOI": "10.1086/514856",
      "volume": "61",
      "author": "Cooper",
      "year": "1997",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB13",
      "first-page": "1248",
      "volume": "3",
      "author": "Cote",
      "year": "1997",
      "journal-title": "RNA"
    },
    {
      "key": "10.1002/humu.20103-BIB14",
      "doi-asserted-by": "crossref",
      "first-page": "938",
      "DOI": "10.1073/pnas.98.3.938",
      "volume": "98",
      "author": "Cote",
      "year": "2001",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "10.1002/humu.20103-BIB15",
      "doi-asserted-by": "crossref",
      "first-page": "2143",
      "DOI": "10.1128/MCB.17.4.2143",
      "volume": "17",
      "author": "Coulter",
      "year": "1997",
      "journal-title": "Mol Cell Biol"
    },
    {
      "key": "10.1002/humu.20103-BIB16",
      "doi-asserted-by": "crossref",
      "first-page": "680",
      "DOI": "10.1126/science.8430317",
      "volume": "259",
      "author": "Dietz",
      "year": "1993",
      "journal-title": "Science"
    },
    {
      "key": "10.1002/humu.20103-BIB17",
      "doi-asserted-by": "crossref",
      "first-page": "183",
      "DOI": "10.1038/ng1094-183",
      "volume": "8",
      "author": "Dietz",
      "year": "1994",
      "journal-title": "Nat Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB18",
      "doi-asserted-by": "crossref",
      "first-page": "6075",
      "DOI": "10.1128/MCB.11.12.6075",
      "volume": "11",
      "author": "Dominski",
      "year": "1991",
      "journal-title": "Mol Cell Biol"
    },
    {
      "key": "10.1002/humu.20103-BIB19",
      "doi-asserted-by": "crossref",
      "first-page": "2108",
      "DOI": "10.1128/MCB.12.5.2108",
      "volume": "12",
      "author": "Dominski",
      "year": "1992",
      "journal-title": "Mol Cell Biol"
    },
    {
      "key": "10.1002/humu.20103-BIB20",
      "doi-asserted-by": "crossref",
      "first-page": "5598",
      "DOI": "10.1073/pnas.96.10.5598",
      "volume": "96",
      "author": "D'Souza",
      "year": "1999",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "10.1002/humu.20103-BIB21",
      "doi-asserted-by": "crossref",
      "first-page": "625",
      "DOI": "10.1086/342192",
      "volume": "71",
      "author": "Fackenthal",
      "year": "2002",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB22",
      "doi-asserted-by": "crossref",
      "first-page": "790",
      "DOI": "10.1086/302809",
      "volume": "66",
      "author": "Fahsold",
      "year": "2000",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB23",
      "doi-asserted-by": "crossref",
      "first-page": "1007",
      "DOI": "10.1126/science.1073774",
      "volume": "297",
      "author": "Fairbrother",
      "year": "2002",
      "journal-title": "Science"
    },
    {
      "key": "10.1002/humu.20103-BIB24",
      "doi-asserted-by": "crossref",
      "first-page": "419",
      "DOI": "10.1101/gad.1048803",
      "volume": "17",
      "author": "Faustino",
      "year": "2003",
      "journal-title": "Genes Dev"
    },
    {
      "key": "10.1002/humu.20103-BIB25",
      "doi-asserted-by": "crossref",
      "first-page": "12614",
      "DOI": "10.1073/pnas.221456898",
      "volume": "98",
      "author": "Ferrari",
      "year": "2001",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "10.1002/humu.20103-BIB26",
      "doi-asserted-by": "crossref",
      "first-page": "1640",
      "DOI": "10.1128/MCB.19.3.1640",
      "volume": "19",
      "author": "Gersappe",
      "year": "1999",
      "journal-title": "Mol Cell Biol"
    },
    {
      "key": "10.1002/humu.20103-BIB27",
      "doi-asserted-by": "crossref",
      "first-page": "1926",
      "DOI": "10.1101/gad.7.10.1926",
      "volume": "7",
      "author": "Gontarek",
      "year": "1993",
      "journal-title": "Genes Dev"
    },
    {
      "key": "10.1002/humu.20103-BIB28",
      "doi-asserted-by": "crossref",
      "first-page": "1157",
      "DOI": "10.1086/378819",
      "volume": "73",
      "author": "Gorlov",
      "year": "2003",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB29",
      "doi-asserted-by": "crossref",
      "first-page": "1197",
      "DOI": "10.1017/S1355838200000960",
      "volume": "6",
      "author": "Graveley",
      "year": "2000",
      "journal-title": "RNA"
    },
    {
      "key": "10.1002/humu.20103-BIB30",
      "doi-asserted-by": "crossref",
      "first-page": "302",
      "DOI": "10.1016/S0955-0674(00)00212-X",
      "volume": "13",
      "author": "Hastings",
      "year": "2001",
      "journal-title": "Curr Opin Cell Biol"
    },
    {
      "key": "10.1002/humu.20103-BIB31",
      "doi-asserted-by": "crossref",
      "first-page": "307",
      "DOI": "10.1016/S0092-8674(00)80542-5",
      "volume": "96",
      "author": "Hentze",
      "year": "1999",
      "journal-title": "Cell"
    },
    {
      "key": "10.1002/humu.20103-BIB32",
      "doi-asserted-by": "crossref",
      "first-page": "269",
      "DOI": "10.1086/301715",
      "volume": "62",
      "author": "Hoffmeyer",
      "year": "1998",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB33",
      "first-page": "23",
      "volume-title": "The neurofibromatoses: a clinical and pathogenetic overview",
      "author": "Huson",
      "year": "1994",
      "unstructured": "1994. The neurofibromatoses: a clinical and pathogenetic overview. London: Chapman and Hall Medical. p 23-49."
    },
    {
      "key": "10.1002/humu.20103-BIB34",
      "doi-asserted-by": "crossref",
      "first-page": "460",
      "DOI": "10.1038/ng1207",
      "volume": "34",
      "author": "Kashima",
      "year": "2003",
      "journal-title": "Nat Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB35",
      "doi-asserted-by": "crossref",
      "first-page": "1998",
      "DOI": "10.1101/gad.12.13.1998",
      "volume": "12",
      "author": "Liu",
      "year": "1998",
      "journal-title": "Genes Dev"
    },
    {
      "key": "10.1002/humu.20103-BIB36",
      "doi-asserted-by": "crossref",
      "first-page": "1063",
      "DOI": "10.1128/MCB.20.3.1063-1071.2000",
      "volume": "20",
      "author": "Liu",
      "year": "2000",
      "journal-title": "Mol Cell Biol"
    },
    {
      "key": "10.1002/humu.20103-BIB37",
      "doi-asserted-by": "crossref",
      "first-page": "55",
      "DOI": "10.1038/83762",
      "volume": "27",
      "author": "Liu",
      "year": "2001",
      "journal-title": "Nat Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB38",
      "doi-asserted-by": "crossref",
      "first-page": "173",
      "DOI": "10.1016/S0092-8674(01)00202-1",
      "volume": "104",
      "author": "Maquat",
      "year": "2001",
      "journal-title": "Cell"
    },
    {
      "key": "10.1002/humu.20103-BIB39",
      "doi-asserted-by": "crossref",
      "first-page": "1743",
      "DOI": "10.1101/gad.1014502",
      "volume": "16",
      "author": "Maquat",
      "year": "2002",
      "journal-title": "Genes Dev"
    },
    {
      "key": "10.1002/humu.20103-BIB40",
      "doi-asserted-by": "crossref",
      "first-page": "75",
      "DOI": "10.1007/s004390050590",
      "volume": "101",
      "author": "Messiaen",
      "year": "1997",
      "journal-title": "Hum Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB41",
      "doi-asserted-by": "crossref",
      "first-page": "541",
      "DOI": "10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N",
      "volume": "15",
      "author": "Messiaen",
      "year": "2000",
      "journal-title": "Hum Mutat"
    },
    {
      "key": "10.1002/humu.20103-BIB42",
      "doi-asserted-by": "crossref",
      "first-page": "11768",
      "DOI": "10.1074/jbc.M211106200",
      "volume": "278",
      "author": "Mine",
      "year": "2003",
      "journal-title": "J Biol Chem"
    },
    {
      "key": "10.1002/humu.20103-BIB43",
      "doi-asserted-by": "crossref",
      "first-page": "2657",
      "DOI": "10.1128/MCB.19.4.2657",
      "volume": "19",
      "author": "Muro",
      "year": "1999",
      "journal-title": "Mol Cell Biol"
    },
    {
      "key": "10.1002/humu.20103-BIB44",
      "doi-asserted-by": "crossref",
      "first-page": "26580",
      "DOI": "10.1074/jbc.M212813200",
      "volume": "278",
      "author": "Pagani",
      "year": "2003a",
      "journal-title": "J Biol Chem"
    },
    {
      "key": "10.1002/humu.20103-BIB45",
      "doi-asserted-by": "crossref",
      "first-page": "1111",
      "DOI": "10.1093/hmg/ddg131",
      "volume": "12",
      "author": "Pagani",
      "year": "2003b",
      "journal-title": "Hum Mol Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB46",
      "doi-asserted-by": "crossref",
      "first-page": "4014",
      "DOI": "10.1128/MCB.16.8.4014",
      "volume": "16",
      "author": "Ryan",
      "year": "1996",
      "journal-title": "Mol Cell Biol"
    },
    {
      "key": "10.1002/humu.20103-BIB47",
      "doi-asserted-by": "crossref",
      "first-page": "917",
      "DOI": "10.1086/420794",
      "volume": "74",
      "author": "Schwarze",
      "year": "2004",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB48",
      "doi-asserted-by": "crossref",
      "first-page": "2204",
      "DOI": "10.1172/JCI119757",
      "volume": "100",
      "author": "Shiga",
      "year": "1997",
      "journal-title": "J Clin Invest"
    },
    {
      "key": "10.1002/humu.20103-BIB49",
      "doi-asserted-by": "crossref",
      "first-page": "1386",
      "DOI": "10.1101/gad.6.8.1386",
      "volume": "6",
      "author": "Siebel",
      "year": "1992",
      "journal-title": "Genes Dev"
    },
    {
      "key": "10.1002/humu.20103-BIB50",
      "doi-asserted-by": "crossref",
      "first-page": "3821",
      "DOI": "10.1093/emboj/20.14.3821",
      "volume": "20",
      "author": "Stickeler",
      "year": "2001",
      "journal-title": "EMBO J"
    },
    {
      "key": "10.1002/humu.20103-BIB51",
      "first-page": "660",
      "volume": "3",
      "author": "Valentine",
      "year": "1997",
      "journal-title": "RNA"
    },
    {
      "key": "10.1002/humu.20103-BIB52",
      "doi-asserted-by": "crossref",
      "first-page": "87",
      "DOI": "10.1016/S1383-5742(98)00010-6",
      "volume": "411",
      "author": "Valentine",
      "year": "1998",
      "journal-title": "Mutat Res"
    },
    {
      "key": "10.1002/humu.20103-BIB53",
      "doi-asserted-by": "crossref",
      "first-page": "e68",
      "DOI": "10.1093/nar/29.13.e68",
      "volume": "29",
      "author": "Vandenbroucke",
      "year": "2001",
      "journal-title": "Nucleic Acids Res"
    },
    {
      "key": "10.1002/humu.20103-BIB54",
      "doi-asserted-by": "crossref",
      "first-page": "71",
      "DOI": "10.1016/S0014-5793(02)02887-9",
      "volume": "522",
      "author": "Vandenbroucke",
      "year": "2002",
      "journal-title": "FEBS Lett"
    },
    {
      "key": "10.1002/humu.20103-BIB55",
      "doi-asserted-by": "crossref",
      "first-page": "187",
      "DOI": "10.1016/0092-8674(90)90252-A",
      "volume": "62",
      "author": "Viskochil",
      "year": "1990",
      "journal-title": "Cell"
    },
    {
      "key": "10.1002/humu.20103-BIB56",
      "doi-asserted-by": "crossref",
      "first-page": "543",
      "DOI": "10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S",
      "volume": "14",
      "author": "Vuillaumier-Barrot",
      "year": "1999",
      "journal-title": "Hum Mutat"
    },
    {
      "key": "10.1002/humu.20103-BIB57",
      "doi-asserted-by": "crossref",
      "first-page": "181",
      "DOI": "10.1126/science.2134734",
      "volume": "249",
      "author": "Wallace",
      "year": "1990",
      "journal-title": "Science"
    },
    {
      "key": "10.1002/humu.20103-BIB58",
      "doi-asserted-by": "crossref",
      "first-page": "311",
      "DOI": "10.1007/s004390051043",
      "volume": "106",
      "author": "Wimmer",
      "year": "2000a",
      "journal-title": "Hum Genet"
    },
    {
      "key": "10.1002/humu.20103-BIB59",
      "doi-asserted-by": "crossref",
      "first-page": "90",
      "DOI": "10.1002/1098-1004(200007)16:1<90::AID-HUMU20>3.0.CO;2-J",
      "volume": "16",
      "author": "Wimmer",
      "year": "2000b",
      "journal-title": "Hum Mutat"
    },
    {
      "key": "10.1002/humu.20103-BIB60",
      "doi-asserted-by": "crossref",
      "first-page": "896",
      "DOI": "10.1093/jnen/61.10.896",
      "volume": "61",
      "author": "Wimmer",
      "year": "2002",
      "journal-title": "J Neuropathol Exp Neurol"
    }
  ],
  "container-title": "Human Mutation",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.20103",
      "content-type": "unspecified",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "https://onlinelibrary.wiley.com/doi/full/10.1002/humu.20103",
      "content-type": "unspecified",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2022,
        12,
        29
      ]
    ],
    "date-time": "2022-12-29T16:51:46Z",
    "timestamp": 1672332706000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://onlinelibrary.wiley.com/doi/10.1002/humu.20103"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        2004
      ]
    ]
  },
  "references-count": 60,
  "journal-issue": {
    "issue": "6",
    "published-print": {
      "date-parts": [
        [
          2004,
          12
        ]
      ]
    }
  },
  "URL": "http://dx.doi.org/10.1002/humu.20103",
  "relation": {},
  "ISSN": [
    "1059-7794",
    "1098-1004"
  ],
  "subject": [],
  "container-title-short": "Hum. Mutat.",
  "published": {
    "date-parts": [
      [
        2004
      ]
    ]
  }
}