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Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss
BACKGROUND: Autosomal recessive non-syndromic hearing loss (ARNSHL) is highly heterogeneous, and mutations in the gene encoding transmembrane channel-like 1 (TMC1) have been implicated in its development. To date, 35 homozygous mutations in TMC1, identified in over 60 families worldwide, have been s...
Autores principales: | Hu, Jiongjiong, Liu, Fei, Xia, Wenjun, Hao, Lili, Lan, Jun, Zhu, Zhenghua, Ye, Jing, Ma, Duan, Ma, Zhaoxin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731951/ https://www.ncbi.nlm.nih.gov/pubmed/26822030 http://dx.doi.org/10.1186/s12967-016-0780-5 |
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