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
Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis
✍ Scribed by Luı́sa Azevedo; Laura Vilarinho; Elisa Leão Teles; António Amorim
- Book ID
- 117735360
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 88 KB
- Volume
- 76
- Category
- Article
- ISSN
- 1096-7192
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📜 SIMILAR VOLUMES
DNA analysis of a male propositus with ornithine transcarbamylase (OTC) deficiency documented an A-to-C substitution in position +4 of intron 1. No other abnormalities were observed in the OTC gene, or at 563 bp upstream of the 5' site, which included a promoter region, or at 383 bp downstream of th
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