Correction of ornithine transcarbamylase (OTC) deficiency in spf-ash mice by introduction of rat OTC gene
โ Scribed by Tokihiko Shimada; Takashi Noda; Masaaki Tashiro; Takashi Murakami; Masaki Takiguchi; Masataka Mori; Ken-ichi Yamamura; Takeyori Saheki
- Book ID
- 115924473
- Publisher
- Elsevier Science
- Year
- 1991
- Tongue
- English
- Weight
- 221 KB
- Volume
- 279
- Category
- Article
- ISSN
- 0014-5793
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The "private" nature of most mutations causing ornithine transcarbamylase (OTC) deficiency makes mutation identification in the patients difficult. Further, the PCR-amplification technology generally used for the genetic diagnosis of the deficiency misses large deletions in carrier females. Intragen
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