Article
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
Annals of human genetics - 1 Nov 2006
Azevedo L, Soares P A, Quental R, Vilarinho L, Teles E L, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A
Abstract excerpt
Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Since the sequence of the OTC gene was reported many types of mutations continue to be found in OTC deficiency patients, continuing to increase the already wide mutational spectrum known for this gene. In this study we present the clinical, biochemical and molecular features of thirteen late-onset...
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