Article
Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
The Kobe journal of medical sciences - 1 Jan 2007
Ogino Wakako, Takeshima Yasuhiro, Nishiyama Atsushi, Okizuka Yo, Yagi Mariko, Tsuneishi Shuichi, Saiki Kayoko, Kugo Masaaki, Matsuo Masafumi
Abstract excerpt
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. Although a combination of molecular methods have been used including DNA sequencing of all 10 exons and exon-intron boundaries of OTC gene, only approximately 80% of patients with OTC deficiency are found to have mutations. We report two known and three novel mutations of the OTC gene in five Japanese patients including...
Topics
- Child
- Child, Preschool
- Codon, Nonsense
- DNA Mutational Analysis
- Exons
- Female
- Humans
- Infant
- Infant, Newborn
- Introns
- Male
- Mutation
- Ornithine Carbamoyltransferase