Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene-Reference-Cited by-同舟云学术

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Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene

Published:2002-06 Issue:2 Volume:76 Page:137-144
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bisanzi S,Morrone A,Donati M.A,Pasquini E,Spada M,Strisciuglio P,Parenti G,Parini R,Papadia F,Zammarchi E

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference22 articles.

1. Urea cycle enzymes;Brusilow,2001

2. X-Chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase;Ricciuti;Am. J. Hum. Genet.,1976

3. Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular distrophy locus;Lindren;Science,1984

4. Structure of the human ornithine transcarbamylase gene;Hata;J. Biochem.,1988

5. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase;Horwich;Science,1984

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function;Frontiers in Pediatrics;2024-09-12

2. Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review;Frontiers in Genetics;2022-10-11

3. Reducing False-Positive Results in Newborn Screening Using Machine Learning;International Journal of Neonatal Screening;2020-03-03

4. A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder;Brain and Development;2014-09

5. Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency;American Journal of Medical Genetics Part A;2014-08-13

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