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机译:RBCK1的n末端部分外的突变可能导致具有免疫功能障碍的聚葡聚糖身体肌病:膨胀基因型 - 表型谱
Med Univ Vienna Dept Neurol Wahringer Gurtel 18-20 A-1090 Vienna Austria;
Austrian Acad Sci CeMM Res Ctr Mol Med Vienna Austria;
Med Univ Vienna Inst Clin Pathol Vienna Austria;
Med Univ Vienna Dept Neurol Wahringer Gurtel 18-20 A-1090 Vienna Austria;
Tech Univ Munich Inst Human Genet Munich Germany;
Tech Univ Munich Inst Human Genet Munich Germany;
Tech Univ Munich Inst Human Genet Munich Germany;
Justus Liebig Univ Inst Neuropathol Giessen Germany;
Gottingen Univ Dept Otolaryngol Med Sch Gottingen Germany;
Med Univ Vienna Dept Lab Med Vienna Austria;
Med Univ Vienna Dept Lab Med Vienna Austria;
Med Univ Vienna Dept Neurol Wahringer Gurtel 18-20 A-1090 Vienna Austria;
Austrian Acad Sci CeMM Res Ctr Mol Med Vienna Austria;
Justus Liebig Univ Dept Neuropediat Giessen Germany;
Med Univ Vienna Dept Neurol Wahringer Gurtel 18-20 A-1090 Vienna Austria;
Polyglucosan body myopathy; Glycogen storage disease; Cardiomyopathy; RBCK1; HOIL-1; Whole-exome sequencing;
机译:RBCK1的n末端部分外的突变可能导致具有免疫功能障碍的聚葡聚糖身体肌病:膨胀基因型 - 表型谱
机译:与VCP基因的新突变相关的远端肌病和快速进行性痴呆:用早起癌症疾病和额发痴呆谱膨胀包容体肌病
机译:聚葡糖体肌病家族中GYG1基因突变
机译:RBCK1 N末端以外的突变可能导致具有免疫功能障碍的聚葡聚糖体肌病:扩大基因型-表型谱
机译:泛骨泛素连接酶Rbck1缺陷引起的聚葡聚糖身体肌病1