The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain-论文-万方医学网

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain

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作者： Izumi, Rumiko ^[1] ; Takahashi, Toshiaki ^[2] ; Suzuki, Naoki ^[3] ; Niihori, Tetsuya ^[4] ; Ono, Hiroya ; Nakamura, Naoko ; Katada, Shinichi ; Kato, Masaaki ; Warita, Hitoshi ; Tateyama, Maki ; Aoki, Yoko ; Aoki, Masashi

作者单位： Tohoku Univ, Dept Neurol, Grad Sch Med, Sendai, Miyagi, Japan ^[1] Natl Hosp Org, Dept Neurol, Sendai Nishitaga Hosp, Sendai, Miyagi, Japan ^[2] Tohoku Univ, Dept Med Genet, Grad Sch Med, Sendai, Miyagi, Japan ^[3] Niigata Univ, Brain Res Inst, Dept Neurol, Niigata, Japan ^[4]

关键词 arginine and tryptophan (R W) stacking dysferlin inner DysF domain limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy next-generation sequencing

发布时间 2022-09-10

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