Four New Mutations in the Ornithine Transcarbamylase Gene
β Scribed by O. Reish; R.J. Plante; M. Tuchman
- Book ID
- 112237931
- Publisher
- Elsevier Science
- Year
- 1993
- Tongue
- English
- Weight
- 374 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0885-4505
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## Communicated by Arnold Munnich Ornithine transcarbamylase (OTC) deficiency, an X-linked, semidominant disorder, is the most common inherited defect in ureagenesis resulting in hyperammonemia. The previous two mutation updates for the OTC gene were published in 1993 and 1995 and included 36 and 3
Deletions of variable size involving one or more exons, 29 different missense, nonsense, or frameshift mutations, and three polymorphisms have been found in patients with ornithine transcarbamylase (OTC) deficiency. Most of the deletions and mutations were found in patients with severe disease manif
Ornithine transcarbamylase (OTC) deficiency is the most common inherited disorder of the urea cycle and is transmitted as an X-linked trait. Defects in the OTC gene cause a block in ureagenesis resulting in hyperammonemia, which can lead to brain damage and death. Three previous mutation updates for