Case Report: Whole-Exome Sequencing with MLPA Revealed Variants in Two Genes in a Patient with Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
Frontiers in Genetics（2021）
关键词
spinal muscular atrophy,Duchenne muscular dystrophy,synchronous diseases,whole-exome sequencing,MLPA,Nusinersen (Spinraza)
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