A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency
β Scribed by K. -P. Zimmer; T. Matsuura; J. -P. Colombo; H. -G. Koch; K. Ullrich; T. Deufel; E. Harms; I. Matsuda
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 146 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0141-8955
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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
The urea cycle plays key roles to prevent the accumulation of toxic nitrogenous compound and synthesize arginine de novo. Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle, which is inherited in an X-linked manner. This study was undertaken to characterize mol
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