Article
[Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2014
Chen Zhanling, Wen Pengqiang, Wang Guobing, Liu Xiaohong, Chen Li, Chen Shuli, Wan Lisheng, Cui Dong, Shang Yue, Li Chengrong
Abstract excerpt
OBJECTIVE: To identify the types of OTC gene mutations in three male patients with late onset ornithine transcarbamylase deficiency (OTCD, MIM #311250). METHODS: Genomic DNA was extracted from peripheral blood leukocytes. The 10 exons and their flanking sequences of the OTC gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing. RESULTS: Based on DNA sequence analysis, all of...
Topics
- Age of Onset
- Amino Acid Sequence
- Base Sequence
- Child
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Ornithine Carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- Sequence Analysis, DNA