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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hu, Jiongjiong, Liu, Fei, Xia, Wenjun, Hao, Lili, Lan, Jun, Zhu, Zhenghua, Ye, Jing, Ma, Duan, Ma, Zhaoxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
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

Internet

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

Ejemplares similares