A Leu148Phe substitution of the ornithine transcarbamylase (OTC) gene was identified in a 2-year-old girl with OTC deficiency (14% of control). Her two elder sisters died in childhood of hyperammonemia, and the patient also died of OTC deficiency. Enzyme activity in Cos1 cells transfected by the mut
A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree
β Scribed by A.S.B. Khoo; P. Balraj; A. Rachedi; C.N. Chin; L. Volpi
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 11 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1059-7794
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