DOI: 10.1007/bf00273443. Genetic analysis of carbamyl phosphate synthetase I deficiency

Genetic analysis of carbamyl phosphate synthetase I deficiency

10.1007/bf00273443

Crossref journal-article

Springer Science and Business Media LLC

Human Genetics (297)

Bibliography

Fearon, E. R., Mallonee, R. L., Phillips, J. A., OâBrien, W. E., Brusilow, S. W., Adcock, M. W., & Kirby, L. T. (1985). Genetic analysis of carbamyl phosphate synthetase I deficiency. Human Genetics, 70(3), 207â210.

Authors 7

Eric R. Fearon (first)
Richard L. Mallonee (additional)
John A. Phillips (additional)
William E. O'Brien (additional)
Saul W. Brusilow (additional)
Mark W. Adcock (additional)
Lorne T. Kirby (additional)

References 17 Referenced 12

Adcock MW, O'Brien WE (1984) Molecular cloning of cDNA for rat and human carbamyl phosphate synthetase I. J Biol Chem 259:13471–13476 (10.1016/S0021-9258(18)90718-0) / J Biol Chem by MW Adcock (1984)
Applegarth DA, Macleod PM, Toone JR, Kirby LT, MacLean JR, Mamer OA, Montgomery JA (1979) Organic acids and Reye's syndrome. Lancet 1:1147 (10.1016/S0140-6736(79)91825-7) / Lancet by DA Applegarth (1979)
Arashima S, Matsuda I (1972) A case of carbamyl phosphate synthetase deficiency. Tohoku J Exp Med 107:143–147 (10.1620/tjem.107.143) / Tohoku J Exp Med by S Arashima (1972)
Boehm CD, Antonarakis SE, Phillips JA III, Stetten G, Kazarian HH Jr (1983) Prenatal diagnosis using DNA polymorphisms: Report on 95 pregnancies at risk for sickle cell disease of β-thalassemia. N Engl J Med 308:1054–1058 (10.1056/NEJM198305053081803) / N Engl J Med by CD Boehm (1983)
Brusilow SW, Batshaw ML, Waber L (1982) Neonatal hyperammonemic coma. Adv Pediatr 29:69–103 (10.1016/S0065-3101(22)00597-7) / Adv Pediatr by SW Brusilow (1982)
Gelehrter TD, Snodgrass PJ (1974) Lethal neonatal deficinency of carbamyl phosphate synthetase. N Engl J Med 290:430–433 (10.1056/NEJM197402212900804) / N Engl J Med by TD Gelehrter (1974)
Kan YM, Dozy AM (1978) Polymorphism of DNA sequence adjacent to human β-globin structural gene: Relationship to sickle mutation. Proc Natl Acad Sci USA 75:5631–5635 (10.1073/pnas.75.11.5631) / Proc Natl Acad Sci USA by YM Kan (1978)
Kan YW, Dozy AM (1978) Antenatal diagnosis of sickle cell anemia by DNA analysis of amniotic fluid cells. Lancet 2:910–912 (10.1016/S0140-6736(78)91629-X) / Lancet by YW Kan (1978)
Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM (1977) Analysis of human Y chromosome specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245–1249 (10.1073/pnas.74.3.1245) / Proc Natl Acad Sci USA by LM Kunkel (1977)
McReynolds JW, Crowley B, Mahoney MJ, Rosenberg LE (1981) Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency. Am J Hum Genet 33:345–353 / Am J Hum Genet by JW McReynolds (1981)
Morton NE (1955) Sequential tests for the detection of linkage. Am J Hum Genet 7:277–318 / Am J Hum Genet by NE Morton (1955)
Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV (1982) Linkage of β-thalasemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 296:627–631 (10.1038/296627a0) / Nature by SH Orkin (1982)
Ott J (1974) Estimation of the recombination fractions in human pedigrees: Efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588–597 / Am J Hum Genet by J Ott (1974)
Schachat FH, Hogness DC (1973) Repetitive sequences in isolated Thomas Circles from Drosophilia melanogaster. Cold Spring Harbor Symp Quant Biol 38:371–375 (10.1101/SQB.1974.038.01.040) / Cold Spring Harbor Symp Quant Biol by FH Schachat (1973)
Scott AF, Phillips JA III, Migeon BR (1979) DNA restriction endonuclease analysis for the localization of the human δ- and β-globin genes on chromosome 11. Proc Natl Acad Sci USA 76:4563–4565 (10.1073/pnas.76.9.4563) / Proc Natl Acad Sci USA by AF Scott (1979)
Shih VE (1976) Hereditary urea cycle disorders. In: Gusolia S, Bagreue R, Mayor F (eds) The urea cycle. John Wiley, New York, pp 367–414 / The urea cycle by VE Shih (1976)
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 93:503–517 (10.1016/S0022-2836(75)80083-0) / J Mol Biol by EM Southern (1975)

Dates

Type	When
Created	20 years, 11 months ago (Sept. 19, 2004, 10:57 a.m.)
Deposited	2 years, 4 months ago (April 29, 2023, 6:09 a.m.)
Indexed	1 year, 10 months ago (Oct. 21, 2023, 12:02 p.m.)
Issued	40 years, 2 months ago (July 1, 1985)
Published	40 years, 2 months ago (July 1, 1985)
Published Print	40 years, 2 months ago (July 1, 1985)

Funders 0

None

BibTeX

@article{Fearon_1985, title={Genetic analysis of carbamyl phosphate synthetase I deficiency}, volume={70}, ISSN={1432-1203}, url={http://dx.doi.org/10.1007/bf00273443}, DOI={10.1007/bf00273443}, number={3}, journal={Human Genetics}, publisher={Springer Science and Business Media LLC}, author={Fearon, Eric R. and Mallonee, Richard L. and Phillips, John A. and O’Brien, William E. and Brusilow, Saul W. and Adcock, Mark W. and Kirby, Lorne T.}, year={1985}, month=jul, pages={207–210} }

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