𝔖 Bobbio Scriptorium
✦   LIBER   ✦

OTC Gene in Ornithine Transcarbamylase Deficiency: Clinical Course and Mutational Spectrum in Seven Korean Patients

✍ Scribed by Lee, Jung Hyun; Kim, Gu-Hwan; Yoo, Han-Wook; Cheon, Chong-Kun


Book ID
124145180
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
331 KB
Volume
51
Category
Article
ISSN
0887-8994

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of novel mutations in the
✍ Gu-Hwan Kim; Jin-Ho Choi; Hyung-Haon Lee; Sangwook Park; Sung-Su Kim; Han-Wook Y πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 148 KB πŸ‘ 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

Identification of seven novel missense m
✍ Consuelo Climent; Vicente Rubio πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 32 KB πŸ‘ 1 views

Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private"character with little recurrence. We report on eleve

Identification of a cytogenetic deletion
✍ Consuelo Climent; Miguel Ángel GarcΓ­a-PΓ©rez; Pablo Sanjurjo; JosΓ©-Ignacio Ruiz-S πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 16 KB πŸ‘ 3 views

A deletion of at least 11.5 cM in the paternal X chromosome mapping between microsatellites DXS989 and DXS1003 and encompassing the genes for ornithine transcarbamylase (OTC), retinitis pigmentosa GTPase regulator (RPGR) and dystrophin, was associated with the loss of band Xp21 in a female patient w