Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
第一作者:
Guney,Bademci
第一单位:
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
作者:
医学主题词
等位基因(Alleles);队列研究(Cohort Studies);聋(Deafness);基因, 隐性(Genes, Recessive);基因型(Genotype);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);突变(Mutation)
DOI
10.1038/gim.2015.89
PMID
26226137
发布时间
2022-02-10
基金项目
R01 DC009645/DC/NIDCD NIH HHS/United States
R01DC009645/DC/NIDCD NIH HHS/United States
- 浏览9
Genetics in medicine
364-71页
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