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机译:
Department of Internal Medicine, University of Rome Tor Vergata, Via Tor Vergata 135, 00133 Rome, Italy.;
itt.edu;
Collagen; Connective Tissue Diseases; Genes; Recessive; Muscular Dystrophies genetics; 胶原; 结缔组织疾病; 基因; 隐性; 突变;
机译:Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.
机译:THE SEX RATIO OF MUTATION RATES OF SEX‐LINKED RECESSIVE GENES IN MAN WITH PARTICULAR REFERENCE TO DUCHENNE TYPE MUSCULAR DYSTROPHY
机译:MUTATION IN THE SEX‐LINKED RECESSIVE TYPE OF MUSCULAR DYSTROPHY. A POSSIBLE SEX DIFFERENCE
机译:The TREaT-NmD DmD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations