换一批
换一批Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
第一单位：
Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.
作者：
主题词
青少年(Adolescent);发病年龄(Age of Onset);碱基序列(Base Sequence);儿童(Child);儿童, 学龄前(Child, Preschool);染色体图(Chromosome Mapping);近亲(Consanguinity);DNA突变分析(DNA Mutational Analysis);外显子(Exons);女(雌)性(Female);基因, 隐性(Genes, Recessive);人类(Humans);婴儿(Infant);内含子(Introns);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变(Mutation);多态性, 单核苷酸(Polymorphism, Single Nucleotide);蛋白质类(Proteins);视网膜营养不良(Retinal Dystrophies);视网膜色素上皮(Retinal Pigment Epithelium)
DOI
10.1016/j.ajhg.2011.11.015
PMID
22177090
发布时间
2021-10-21
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