Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene

Author:

Yamaguchi Saori,Brailey Lisa L.,Morizono Hiroki,Bale Allen E.,Tuchman Mendel

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference85 articles.

1. Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis;Azevedo;Mol Genet Metab,2002

2. New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis;Azevedo;Mol Genet Metab,2003

3. A novel missense mutation in the human ornithine transcarbamylase gene;Bartholomew;Hum Mutat,1998

4. Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene;Bisanzi;Mol Genet Metab,2002

5. Urea cycle disorders: diagnosis, pathophysiology, and therapy;Brusilow;Adv Pediatr,1996

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