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
โฆ LIBER โฆ
Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency
โ Scribed by T. Matsuura; R. Hoshide; S. Komaki; K. Kiwaki; F. Endo; S. Nakamura; T. Jitosho; I. Matsuda
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 847 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0141-8955
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