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
Clinical application of DNA analysis in a family with OTC deficiency
β Scribed by McClead, Richard E. ;Rozen, Rima ;Fox, Joyce ;Rosenberg, Leon ;Menke, James ;Bickers, Rex ;Morrow, Grant ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 454 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0148-7299
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