New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis-Reference-Cited by-同舟云学术

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New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis

Published:2003-02 Issue:2 Volume:78 Page:152-157
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Azevedo Luı́sa,Stolnaja Larisa,Tietzeova Evzenie,Hrebicek Martin,Hruba Eva,Vilarinho Laura,Amorim António,Dvorakova Lenka

Publisher

Elsevier BV

Subject

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

Reference20 articles.

1. Human Ornithine Transcarbamylase locus mapped to band Xp21.1 near to Duchenne Muscular Dystrophy locus;Lindgren;Science,1984

2. The Molecular and Metabolic Bases of Inherited Disease;Scriver,1995

3. Mutations and polymorphisms in the human ornithine transcarbamylase gene;Tuchman;Hum. Mutat.,1993

4. Mutations and polymorphisms in the human ornithine transcarbamylase gene;Tuchman;Hum. Mutat.,2002

5. Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency;Tuchman;Am. J. Med. Genet.,1995

Cited by 11 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. Ornithine Transcarbamylase Deficiency: Genetics;eLS;2017-08-14

2. 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening;Gene;2016-12

3. Major influence of repetitive elements on disease-associated copy number variants (CNVs);Human Genomics;2016-09-23

4. Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update;Journal of Genetics and Genomics;2015-05

5. Human carbamoyl phosphate synthetase I (CPSI): Insights on the structural role of the unknown function domains;Biochemical and Biophysical Research Communications;2012-05

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