๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Correction of ornithine transcarbamylase (OTC) deficiency in spf-ash mice by introduction of rat OTC gene

โœ 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

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


H intragenic polymorphisms and haplotype
โœ Consuelo Climent; Vicente Rubio ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 30 KB ๐Ÿ‘ 1 views

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

Familial lethal inheritance of a mutated
โœ Komaki, Satoru; Matsuura, Toshinobu; Oyanagi, Kazuhiko; Hoshide, Ryuuji; Kiwaki, ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 173 KB ๐Ÿ‘ 2 views

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

Identification of novel mutations in the
โœ Gu-Hwan Kim; Jin-Ho Choi; Hyung-Haon Lee; Sangwook Park; Sung-Su Kim; Han-Wook Y ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 148 KB ๐Ÿ‘ 1 views

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