Article
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
BMC medical genetics - 1 Mar 2013
Yang Juan, Li Shao Y, Li Ya Q, Cao Ji Q, Feng Shan W, Wang Yan Y, Zhan Yi X, Yu Chang S, Chen Fei, Li Jing, Sun Xiao F, Zhang Cheng
Abstract excerpt
BACKGROUND: Large-scale analysis of the transmission, mutation characteristics and the relationship between the reading frame and phenotype of the DMD gene has previously been performed in several countries, however, analogous studies have yet to be performed in Chinese populations. METHODS: Clinical data from 1053 Chinese patients with DMD/BMD were collected, and the DMD gene was tested by MLPA in all patients...
Topics
- Asian People
- Dystrophin
- Exons
- Genotype
- Humans
- Male
- Muscular Dystrophy, Duchenne
- Mutation
- Phenotype