Mutations and polymorphisms in the human ornithine transcarbamylase gene
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference74 articles.
1. 2000. Urea cycle enzymes. In: editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 1909-1963.
2. Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia
3. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency
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