换一批
换一批Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
作者：
主题词
衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);发病年龄(Age of Onset);选择性剪接(Alternative Splicing);测听法(Audiometry);碱基序列(Base Sequence);细胞周期蛋白质类(Cell Cycle Proteins);染色体分离(Chromosome Segregation);细胞支架蛋白质类(Cytoskeletal Proteins);DNA突变分析(DNA Mutational Analysis);外显子(Exons);女(雌)性(Female);建立者效应(Founder Effect);移码突变(Frameshift Mutation);基因, 隐性(Genes, Recessive);基因组, 人(Genome, Human);听觉丧失(Hearing Loss);纯合子(Homozygote);人类(Humans);以色列(Israel);男(雄)性(Male);分子序列数据(Molecular Sequence Data);系谱(Pedigree);表型(Phenotype);多态性, 单核苷酸(Polymorphism, Single Nucleotide);色素性视网膜炎(Retinitis Pigmentosa);序列分析, DNA(Sequence Analysis, DNA)
DOI
10.1371/journal.pone.0051566
PMID
23251578
发布时间
2021-10-21
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PloS one
e51566页
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