Hepatic bilirubin excretion requires UDP-glucuronosyltransferase-mediated glucuronidation. Patients with type I Crigler-Najjar syndrome and mutant rats (Gunn strain) inherit deficiency of UDP-glucuronyltransferase activity toward bilirubin as an autosomal recessive trait and, as a result, exhibit ma
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Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis
โ Scribed by T. Matsuura; R. Hoshide; M. Fukushima; T. Sakiyama; M. Owada; I. Matsuda
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 1016 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0141-8955
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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