Seven new mutations in the human ornithine transcarbamylase gene
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference11 articles.
1. (1989) Urea cycle enzymes. In: (eds) The Metabolic Basis of Inherited Disease. McGraw-Hill, New York, pp 629-663.
2. Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency
3. A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency
4. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene
5. The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing.
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