Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency
β Scribed by Peg J. Suess; Michael Y. Tsai; Robert A. Holzknecht; Mia Horowitz; Mendel Tuchman
- Book ID
- 113382995
- Publisher
- Elsevier Science
- Year
- 1992
- Tongue
- English
- Weight
- 702 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0885-4505
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Mutations in the OTC gene in 50 Japanese families with OTC deficiency were reviewed in relation to the phenotype of the patients and predicted structure of the mutant enzyme. Similar to other X-linked diseases, mutant alleles in OTC deficiency are highly heterogeneous. Mutations observed in male pat
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
Four novel mutations are identified in the ornithine transcarbamylase (OTC) gene, in four patients with OTC deficiency (an X-linked disorder). The mutations represent three different categories: missense (Ile159Thr and Ala209Val), nonsense (Tyr167Stop), and causing inefficient splicing (G---~A in th