Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency
โ Scribed by Ichiro Matsuda; Akira Hata; Toshinobu Matsuura; Teruhisa Tsuzuki; Kazunori Shimada
- Book ID
- 115826550
- Publisher
- Elsevier Science
- Year
- 1989
- Tongue
- English
- Weight
- 486 KB
- Volume
- 185
- Category
- Article
- ISSN
- 0009-8981
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๐ SIMILAR VOLUMES
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 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