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
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene
β Scribed by S Bisanzi; A Morrone; M.A Donati; E Pasquini; M Spada; P Strisciuglio; G Parenti; R Parini; F Papadia; E Zammarchi
- Book ID
- 117735374
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 502 KB
- Volume
- 76
- Category
- Article
- ISSN
- 1096-7192
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π SIMILAR VOLUMES
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
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