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A Novel Homozygous Ispd Gene Mutation Causing Phenotype Variability in A Consanguineous Family

Giovanni Baranello,Simona Saredi,Serena Sansanelli,Paolo Savadori,Eleonora Canioni,Luisa Chiapparini,Paolo Balestri,Alessandro Malandrini,Maria Teresa Arnoldi,Chiara Pantaleoni,Lucia Morandi,Marina Mora

NEUROMUSCULAR DISORDERS（2015）

引用 6|浏览29
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关键词
ISPD,Alpha-dystroglycan,Dystroglycanopathies,Congenital muscular dystrophy,Limb-girdle muscular dystrophy
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