Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
作者:
主题词
衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);氨基酸序列(Amino Acid Sequence);碱基序列(Base Sequence);载体蛋白质类(Carrier Proteins);染色体, 人, 19对(Chromosomes, Human, Pair 19);女(雌)性(Female);移码突变(Frameshift Mutation);基因, 隐性(Genes, Recessive);基因连锁(Genetic Linkage);基因座(Genetic Loci);单倍型(Haplotypes);听觉丧失(Hearing Loss);人类(Humans);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变, 误义(Mutation, Missense);系谱(Pedigree)
DOI
10.1007/s00439-011-1018-5
PMID
21660509
发布时间
2024-09-22
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Human genetics
759-65页
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