Article
[Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae - 1 Apr 2003
Song Fang, Jin Yu-wei, Wang Hong, Yang Yan-ling, Zhang Yu-min, Zhang Ting
Abstract excerpt
OBJECTIVE: To study the molecular basis of the phenylalanine hydroxylase (PAH) gene mutation in Chinese patients with phenylketonuria (PKU). METHODS: Using PCR/SSCP and DNA sequencing, we studied the mutations in exons 3, 5, 7, 10, 11, 12 of PAH gene. Totally 120 unrelated children with PKU and their parents from the northern region of China were included in the analysis. RESULT: Ten novel mutations were first...
Topics
- Adult
- Child
- Exons
- Female
- Genetic Heterogeneity
- Humans
- Infant
- Male
- Mutation
- Mutation, Missense
- Phenylalanine Hydroxylase
- Phenylketonurias
- Sequence Analysis, DNA