Article
Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing.
Clinica chimica acta; international journal of clinical chemistry - 23 Aug 2013
Chen Wan-Jin, Lin Qi-Fang, Zhang Qi-Jie, He Jin, Liu Xin-Yi, Lin Min-Ting, Murong Shen-Xing, Liou Chia-Wei, Wang Ning
Abstract excerpt
BACKGROUND: Progressive muscular dystrophy is a leading neuromuscular disorder without any effective treatments and a common genetic cause of mortality among teenagers. A challenge exists in the screening of subtle mutations in 79 exons and little is known about the genotype-phenotype correlation. METHODS: Here we adopted multiplex ligation-dependent probe amplification and Sanger sequencing to detect the...
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