Article
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Human mutation - 1 Jan 1993
Tuchman M
Abstract excerpt
Deletions of variable size involving one or more exons, 29 different missense, nonsense, or frameshift mutations, and three polymorphisms have been found in patients with ornithine transcarbamylase (OTC) deficiency. Most of the deletions and mutations were found in patients with severe disease manifested clinically as acute neonatal hyperammonemia. A small number of mutations or somatic mosaicism for deletions...
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