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Treatment of OTC deficiency

โœ Scribed by Virginia V. Michels; Arthur L. Beaudet

Book ID
119460304
Publisher
Elsevier Science
Year
1983
Tongue
English
Weight
95 KB
Volume
102
Category
Article
ISSN
1097-6833

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Mutations in the OTC gene in 50 Japanese families with OTC deficiency were reviewed in relation to the phenotype of the patients and predicted structure of the mutant enzyme. Similar to other X-linked diseases, mutant alleles in OTC deficiency are highly heterogeneous. Mutations observed in male pat