Article
[Gene Mutation Spectrum Analysis of 170 Patients with Duchenne/Bayesian Muscular Dystrophy in Southwest of China].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition - 1 Mar 2016
Wang Jun, Peng Wu, Hu Xue-jiao, Shang Meng-qiao, Zhou Juan, Zhou Yi, Ye Yuan-xin, Song Xing-bo, Lu Xiao-jun, Ying Bin-wu
Abstract excerpt
OBJECTIVE: To determine gene variations and genotype-phenotype correlations in Duchenne/Bayesian muscular mystrophy (DMD/BMD) patients, and the association between dystrophin gene polymorphisms and clinical phenotype. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was adopted to detect dystrophin gene variations in 170 patients. Sanger sequencing was performed in 3 cases with decreased peaks in...
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