换一批
换一批Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
作者：
主题词
青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);儿童(Child);染色体图(Chromosome Mapping);染色体, 人, 1对(Chromosomes, Human, Pair 1);女(雌)性(Female);人类(Humans);男(雄)性(Male);分子序列数据(Molecular Sequence Data);肌蛋白质类(Muscle Proteins);肌疾病(Muscular Diseases);肌营养不良(Muscular Dystrophies);突变(Mutation);表型(Phenotype);硒蛋白质类(Selenoproteins);脊柱疾病(Spinal Diseases)
DOI
10.1086/342719
PMID
12192640
发布时间
2021-01-11
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