DOI: 10.1038/304230a0. α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

10.1038/304230a0

Crossref journal-article

Springer Science and Business Media LLC

Nature (297)

Bibliography

Kidd, V. J., Wallace, R. B., Itakura, K., & Woo, S. L. C. (1983). Î±1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene. Nature, 304(5923), 230â234.

Authors 4

Vincent J. Kidd (first)
R. Bruce Wallace (additional)
Keiichi Itakura (additional)
Savio L. C. Woo (additional)

References 28 Referenced 184

Heimburger, N., Haupt, H. & Schwick, H. G. in Proc. Int. Res. Conf. Protease Inhibitors (eds Fritz, H. & Tschesche, H.) 1–22 (de Gruyter, Berlin, 1970). / Proc. Int. Res. Conf. Protease Inhibitors by N Heimburger (1970)
Laurell, C. B. & Erikson, S. Scand. J. clin. Lab. Invest. 15, 132–140 (1963). (10.1080/00365516309051324) / Scand. J. clin. Lab. Invest. by CB Laurell (1963)
Briscoe, W. A., Kueppers, F., Davis, A. L. & Bearn, A. G. Am. Rev. resp. Dis. 94, 529–539 (1966). / Am. Rev. resp. Dis. by WA Briscoe (1966)
Sharp, H. L., Bridges, R. A., Krivit, W. & Freier, E. F. J. Lab. clin. Med. 75, 934–939 (1969). / J. Lab. clin. Med. by HL Sharp (1969)
Olsen, G. N., Harris, J. O., Castle, J. R., Waldeman, R. H. & Karmgard, H. J. J. clin. Invest. 55, 427–430 (1975). (10.1172/JCI107947) / J. clin. Invest. by GN Olsen (1975)
Gadek, J. E. et al. Bull. Eur. Physiopath. Resp. 16, 27–40 (1980). / Bull. Eur. Physiopath. Resp. by JE Gadek (1980)
Kueppers, F. in Lung Biology in Health and Disease Vol. 11 (ed. Litwin, S.) 23 (Dekker, New York, 1978). / Lung Biology in Health and Disease by F Kueppers (1978)
Gadek, J. E. et al. Bull. Eur. Physiopath. Resp. 16, Suppl., 27–40 (1980). / Bull. Eur. Physiopath. Resp. by JE Gadek (1980)
Janus, E. D. & Carrell, R. W. N. Z. med. J. 81, 461–467 (1975). / N. Z. med. J. by ED Janus (1975)
Larsson, C. Acta med. scand. 204, 345–351 (1978). (10.1111/j.0954-6820.1978.tb08452.x) / Acta med. scand. by C Larsson (1978)
Kueppers, F. Am. J. hum. Genet. 25, 677–686 (1973). / Am. J. hum. Genet. by F Kueppers (1973)
Fagerhol, M. K. & Laurell, C. B. Prog. med. Genet. 7, 96–111 (1970). / Prog. med. Genet. by MK Fagerhol (1970)
Fagerhol, M. K. Ser. Haemat. 1, 153–161 (1968). / Ser. Haemat. by MK Fagerhol (1968)
Allen, R. C., Harley, R. A. & Talamo, R. C. Am. J. clin. Path. 62, 732–739 (1974). (10.1093/ajcp/62.6.732) / Am. J. clin. Path. by RC Allen (1974)
Laurell, C. B. & Sueger, T. Am. J. hum. Genet. 27, 213–217 (1975). / Am. J. hum. Genet. by CB Laurell (1975)
Jeppsson, J. O. FEBS Lett. 65, 195–197 (1976). (10.1016/0014-5793(76)80478-4) / FEBS Lett. by JO Jeppsson (1976)
Yoshida, A., Lieberman, J., Gaidulis, L. & Ewing, C. Proc. natn. Acad. Sci. U.S.A. 73, 1324–1328 (1976). (10.1073/pnas.73.4.1324) / Proc. natn. Acad. Sci. U.S.A. by A Yoshida (1976)
Kurachi, K. et al. Proc. natn. Acad. Sci. U.S.A. 78, 6826–6830 (1981). (10.1073/pnas.78.11.6826) / Proc. natn. Acad. Sci. U.S.A. by K Kurachi (1981)
Wallace, R. B. et al. Nucleic Acids Res. 6, 3543–3557 (1979). (10.1093/nar/6.11.3543) / Nucleic Acids Res. by RB Wallace (1979)
Wallace, R. B. et al. Nucleic Acids Res. 9, 879–894 (1981). (10.1093/nar/9.4.879) / Nucleic Acids Res. by RB Wallace (1981)
Wallace, R. B., Schöld, M., Johnson, M. J., Dembek, P. & Itakura, K. Nucleic Acids Res. 9, 3647–3656 (1981). (10.1093/nar/9.15.3647) / Nucleic Acids Res. by RB Wallace (1981)
Conner, B. J. et al. Proc natn. Acad. Sci. U.S.A. 80, 278–282 (1983). (10.1073/pnas.80.1.278) / Proc natn. Acad. Sci. U.S.A. by BJ Conner (1983)
Leicht, M. et al. Nature 297, 655–659 (1982). (10.1038/297655a0) / Nature by M Leicht (1982)
Nei, M. & Li, N. H. Proc. natn. Acad. Sci. U.S.A. 76, 5269–5273 (1979). (10.1073/pnas.76.10.5269) / Proc. natn. Acad. Sci. U.S.A. by M Nei (1979)
Orkin, S. H. et al. Nature 296, 627–631 (1982). (10.1038/296627a0) / Nature by SH Orkin (1982)
Miyoshi, K., Huang, T. & Itakura, K. Nucleic Acids Res. 8, 5491–5505 (1979). (10.1093/nar/8.22.5491) / Nucleic Acids Res. by K Miyoshi (1979)
Dembek, P., Miyoshi, K. & Itakura, K. J. Am. chem. Soc. 103, 706–708 (1981). (10.1021/ja00393a053) / J. Am. chem. Soc. by P Dembek (1981)
Kunkel, L. M. et al. Proc natn. Acad. Sci. U.S.A. 74, 1245–1249 (1978). (10.1073/pnas.74.3.1245) / Proc natn. Acad. Sci. U.S.A. by LM Kunkel (1978)

Dates

Type	When
Created	20 years, 9 months ago (Nov. 17, 2004, 6:22 p.m.)
Deposited	2 years, 3 months ago (May 16, 2023, 8:46 p.m.)
Indexed	3 weeks ago (Aug. 1, 2025, 11:59 p.m.)
Issued	42 years, 1 month ago (July 1, 1983)
Published	42 years, 1 month ago (July 1, 1983)
Published Print	42 years, 1 month ago (July 1, 1983)

Funders 0

None

BibTeX

@article{Kidd_1983, title={α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene}, volume={304}, ISSN={1476-4687}, url={http://dx.doi.org/10.1038/304230a0}, DOI={10.1038/304230a0}, number={5923}, journal={Nature}, publisher={Springer Science and Business Media LLC}, author={Kidd, Vincent J. and Wallace, R. Bruce and Itakura, Keiichi and Woo, Savio L. C.}, year={1983}, month=jul, pages={230–234} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        8,
        2
      ]
    ],
    "date-time": "2025-08-02T03:59:40Z",
    "timestamp": 1754107180421
  },
  "reference-count": 28,
  "publisher": "Springer Science and Business Media LLC",
  "issue": "5923",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            1983,
            7,
            1
          ]
        ],
        "date-time": "1983-07-01T00:00:00Z",
        "timestamp": 425865600000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "http://www.springer.com/tdm"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        1983,
        7
      ]
    ]
  },
  "DOI": "10.1038/304230a0",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2004,
        11,
        17
      ]
    ],
    "date-time": "2004-11-17T23:22:49Z",
    "timestamp": 1100733769000
  },
  "page": "230-234",
  "source": "Crossref",
  "is-referenced-by-count": 184,
  "title": "\u03b11-Antitrypsin deficiency detection by direct analysis of the mutation in the gene",
  "prefix": "10.1038",
  "volume": "304",
  "author": [
    {
      "given": "Vincent J.",
      "family": "Kidd",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "R. Bruce",
      "family": "Wallace",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Keiichi",
      "family": "Itakura",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Savio L. C.",
      "family": "Woo",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "297",
  "reference": [
    {
      "key": "BF304230a0_CR1",
      "first-page": "1",
      "volume-title": "Proc. Int. Res. Conf. Protease Inhibitors",
      "author": "N Heimburger",
      "year": "1970",
      "unstructured": "Heimburger, N., Haupt, H. & Schwick, H. G. in Proc. Int. Res. Conf. Protease Inhibitors (eds Fritz, H. & Tschesche, H.) 1\u201322 (de Gruyter, Berlin, 1970)."
    },
    {
      "key": "BF304230a0_CR2",
      "doi-asserted-by": "publisher",
      "first-page": "132",
      "DOI": "10.1080/00365516309051324",
      "volume": "15",
      "author": "CB Laurell",
      "year": "1963",
      "unstructured": "Laurell, C. B. & Erikson, S. Scand. J. clin. Lab. Invest. 15, 132\u2013140 (1963).",
      "journal-title": "Scand. J. clin. Lab. Invest."
    },
    {
      "key": "BF304230a0_CR3",
      "first-page": "529",
      "volume": "94",
      "author": "WA Briscoe",
      "year": "1966",
      "unstructured": "Briscoe, W. A., Kueppers, F., Davis, A. L. & Bearn, A. G. Am. Rev. resp. Dis. 94, 529\u2013539 (1966).",
      "journal-title": "Am. Rev. resp. Dis."
    },
    {
      "key": "BF304230a0_CR4",
      "first-page": "934",
      "volume": "75",
      "author": "HL Sharp",
      "year": "1969",
      "unstructured": "Sharp, H. L., Bridges, R. A., Krivit, W. & Freier, E. F. J. Lab. clin. Med. 75, 934\u2013939 (1969).",
      "journal-title": "J. Lab. clin. Med."
    },
    {
      "key": "BF304230a0_CR5",
      "doi-asserted-by": "publisher",
      "first-page": "427",
      "DOI": "10.1172/JCI107947",
      "volume": "55",
      "author": "GN Olsen",
      "year": "1975",
      "unstructured": "Olsen, G. N., Harris, J. O., Castle, J. R., Waldeman, R. H. & Karmgard, H. J. J. clin. Invest. 55, 427\u2013430 (1975).",
      "journal-title": "J. clin. Invest."
    },
    {
      "key": "BF304230a0_CR6",
      "first-page": "27",
      "volume": "16",
      "author": "JE Gadek",
      "year": "1980",
      "unstructured": "Gadek, J. E. et al. Bull. Eur. Physiopath. Resp. 16, 27\u201340 (1980).",
      "journal-title": "Bull. Eur. Physiopath. Resp."
    },
    {
      "key": "BF304230a0_CR7",
      "first-page": "23",
      "volume-title": "Lung Biology in Health and Disease",
      "author": "F Kueppers",
      "year": "1978",
      "unstructured": "Kueppers, F. in Lung Biology in Health and Disease Vol. 11 (ed. Litwin, S.) 23 (Dekker, New York, 1978)."
    },
    {
      "key": "BF304230a0_CR8",
      "first-page": "27",
      "volume": "16",
      "author": "JE Gadek",
      "year": "1980",
      "unstructured": "Gadek, J. E. et al. Bull. Eur. Physiopath. Resp. 16, Suppl., 27\u201340 (1980).",
      "journal-title": "Bull. Eur. Physiopath. Resp."
    },
    {
      "key": "BF304230a0_CR9",
      "first-page": "461",
      "volume": "81",
      "author": "ED Janus",
      "year": "1975",
      "unstructured": "Janus, E. D. & Carrell, R. W. N. Z. med. J. 81, 461\u2013467 (1975).",
      "journal-title": "N. Z. med. J."
    },
    {
      "key": "BF304230a0_CR10",
      "doi-asserted-by": "publisher",
      "first-page": "345",
      "DOI": "10.1111/j.0954-6820.1978.tb08452.x",
      "volume": "204",
      "author": "C Larsson",
      "year": "1978",
      "unstructured": "Larsson, C. Acta med. scand. 204, 345\u2013351 (1978).",
      "journal-title": "Acta med. scand."
    },
    {
      "key": "BF304230a0_CR11",
      "first-page": "677",
      "volume": "25",
      "author": "F Kueppers",
      "year": "1973",
      "unstructured": "Kueppers, F. Am. J. hum. Genet. 25, 677\u2013686 (1973).",
      "journal-title": "Am. J. hum. Genet."
    },
    {
      "key": "BF304230a0_CR12",
      "first-page": "96",
      "volume": "7",
      "author": "MK Fagerhol",
      "year": "1970",
      "unstructured": "Fagerhol, M. K. & Laurell, C. B. Prog. med. Genet. 7, 96\u2013111 (1970).",
      "journal-title": "Prog. med. Genet."
    },
    {
      "key": "BF304230a0_CR13",
      "first-page": "153",
      "volume": "1",
      "author": "MK Fagerhol",
      "year": "1968",
      "unstructured": "Fagerhol, M. K. Ser. Haemat. 1, 153\u2013161 (1968).",
      "journal-title": "Ser. Haemat."
    },
    {
      "key": "BF304230a0_CR14",
      "doi-asserted-by": "publisher",
      "first-page": "732",
      "DOI": "10.1093/ajcp/62.6.732",
      "volume": "62",
      "author": "RC Allen",
      "year": "1974",
      "unstructured": "Allen, R. C., Harley, R. A. & Talamo, R. C. Am. J. clin. Path. 62, 732\u2013739 (1974).",
      "journal-title": "Am. J. clin. Path."
    },
    {
      "key": "BF304230a0_CR15",
      "first-page": "213",
      "volume": "27",
      "author": "CB Laurell",
      "year": "1975",
      "unstructured": "Laurell, C. B. & Sueger, T. Am. J. hum. Genet. 27, 213\u2013217 (1975).",
      "journal-title": "Am. J. hum. Genet."
    },
    {
      "key": "BF304230a0_CR16",
      "doi-asserted-by": "publisher",
      "first-page": "195",
      "DOI": "10.1016/0014-5793(76)80478-4",
      "volume": "65",
      "author": "JO Jeppsson",
      "year": "1976",
      "unstructured": "Jeppsson, J. O. FEBS Lett. 65, 195\u2013197 (1976).",
      "journal-title": "FEBS Lett."
    },
    {
      "key": "BF304230a0_CR17",
      "doi-asserted-by": "publisher",
      "first-page": "1324",
      "DOI": "10.1073/pnas.73.4.1324",
      "volume": "73",
      "author": "A Yoshida",
      "year": "1976",
      "unstructured": "Yoshida, A., Lieberman, J., Gaidulis, L. & Ewing, C. Proc. natn. Acad. Sci. U.S.A. 73, 1324\u20131328 (1976).",
      "journal-title": "Proc. natn. Acad. Sci. U.S.A."
    },
    {
      "key": "BF304230a0_CR18",
      "doi-asserted-by": "publisher",
      "first-page": "6826",
      "DOI": "10.1073/pnas.78.11.6826",
      "volume": "78",
      "author": "K Kurachi",
      "year": "1981",
      "unstructured": "Kurachi, K. et al. Proc. natn. Acad. Sci. U.S.A. 78, 6826\u20136830 (1981).",
      "journal-title": "Proc. natn. Acad. Sci. U.S.A."
    },
    {
      "key": "BF304230a0_CR19",
      "doi-asserted-by": "publisher",
      "first-page": "3543",
      "DOI": "10.1093/nar/6.11.3543",
      "volume": "6",
      "author": "RB Wallace",
      "year": "1979",
      "unstructured": "Wallace, R. B. et al. Nucleic Acids Res. 6, 3543\u20133557 (1979).",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "BF304230a0_CR20",
      "doi-asserted-by": "publisher",
      "first-page": "879",
      "DOI": "10.1093/nar/9.4.879",
      "volume": "9",
      "author": "RB Wallace",
      "year": "1981",
      "unstructured": "Wallace, R. B. et al. Nucleic Acids Res. 9, 879\u2013894 (1981).",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "BF304230a0_CR21",
      "doi-asserted-by": "publisher",
      "first-page": "3647",
      "DOI": "10.1093/nar/9.15.3647",
      "volume": "9",
      "author": "RB Wallace",
      "year": "1981",
      "unstructured": "Wallace, R. B., Sch\u00f6ld, M., Johnson, M. J., Dembek, P. & Itakura, K. Nucleic Acids Res. 9, 3647\u20133656 (1981).",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "BF304230a0_CR22",
      "doi-asserted-by": "publisher",
      "first-page": "278",
      "DOI": "10.1073/pnas.80.1.278",
      "volume": "80",
      "author": "BJ Conner",
      "year": "1983",
      "unstructured": "Conner, B. J. et al. Proc natn. Acad. Sci. U.S.A. 80, 278\u2013282 (1983).",
      "journal-title": "Proc natn. Acad. Sci. U.S.A."
    },
    {
      "key": "BF304230a0_CR23",
      "doi-asserted-by": "publisher",
      "first-page": "655",
      "DOI": "10.1038/297655a0",
      "volume": "297",
      "author": "M Leicht",
      "year": "1982",
      "unstructured": "Leicht, M. et al. Nature 297, 655\u2013659 (1982).",
      "journal-title": "Nature"
    },
    {
      "key": "BF304230a0_CR24",
      "doi-asserted-by": "publisher",
      "first-page": "5269",
      "DOI": "10.1073/pnas.76.10.5269",
      "volume": "76",
      "author": "M Nei",
      "year": "1979",
      "unstructured": "Nei, M. & Li, N. H. Proc. natn. Acad. Sci. U.S.A. 76, 5269\u20135273 (1979).",
      "journal-title": "Proc. natn. Acad. Sci. U.S.A."
    },
    {
      "key": "BF304230a0_CR25",
      "doi-asserted-by": "publisher",
      "first-page": "627",
      "DOI": "10.1038/296627a0",
      "volume": "296",
      "author": "SH Orkin",
      "year": "1982",
      "unstructured": "Orkin, S. H. et al. Nature 296, 627\u2013631 (1982).",
      "journal-title": "Nature"
    },
    {
      "key": "BF304230a0_CR26",
      "doi-asserted-by": "publisher",
      "first-page": "5491",
      "DOI": "10.1093/nar/8.22.5491",
      "volume": "8",
      "author": "K Miyoshi",
      "year": "1979",
      "unstructured": "Miyoshi, K., Huang, T. & Itakura, K. Nucleic Acids Res. 8, 5491\u20135505 (1979).",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "BF304230a0_CR27",
      "doi-asserted-by": "publisher",
      "first-page": "706",
      "DOI": "10.1021/ja00393a053",
      "volume": "103",
      "author": "P Dembek",
      "year": "1981",
      "unstructured": "Dembek, P., Miyoshi, K. & Itakura, K. J. Am. chem. Soc. 103, 706\u2013708 (1981).",
      "journal-title": "J. Am. chem. Soc."
    },
    {
      "key": "BF304230a0_CR28",
      "doi-asserted-by": "publisher",
      "first-page": "1245",
      "DOI": "10.1073/pnas.74.3.1245",
      "volume": "74",
      "author": "LM Kunkel",
      "year": "1978",
      "unstructured": "Kunkel, L. M. et al. Proc natn. Acad. Sci. U.S.A. 74, 1245\u20131249 (1978).",
      "journal-title": "Proc natn. Acad. Sci. U.S.A."
    }
  ],
  "container-title": "Nature",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "http://www.nature.com/articles/304230a0",
      "content-type": "text/html",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "http://www.nature.com/articles/304230a0.pdf",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "http://www.nature.com/articles/304230a0.pdf",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2023,
        5,
        17
      ]
    ],
    "date-time": "2023-05-17T00:46:14Z",
    "timestamp": 1684284374000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://www.nature.com/articles/304230a0"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        1983,
        7
      ]
    ]
  },
  "references-count": 28,
  "journal-issue": {
    "issue": "5923",
    "published-print": {
      "date-parts": [
        [
          1983,
          7
        ]
      ]
    }
  },
  "alternative-id": [
    "BF304230a0"
  ],
  "URL": "http://dx.doi.org/10.1038/304230a0",
  "relation": {},
  "ISSN": [
    "0028-0836",
    "1476-4687"
  ],
  "subject": [],
  "container-title-short": "Nature",
  "published": {
    "date-parts": [
      [
        1983,
        7
      ]
    ]
  }
}