Structural organization of the human ornithine transcarbamylase gene
โ Scribed by A. Hata; T. Tsuzuki; K. Shimada; M. Takiguchi; M. Mori; I. Matsuda
- Publisher
- Springer
- Year
- 1988
- Tongue
- English
- Weight
- 310 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0141-8955
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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
## 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
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
This mutation update addendum summarizes 30 new mutations and polymorphisms found in the ornithine transcarbamylase (OTC) gene since the publication in this journal of the first mutation update. Thus, more than 60 mutations and polymorphisms in the OTC gene are currently known. Most of the mutations
Communicated by Robert L. Nussbaum We identified three new and three known mutations in male patients with OTC deficiency using PCR amplification of all the individual exons, including the adjacent intron sequences, followed by direct sequencing of the amplimers. Two mutations were found in males p