Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans

Hereditary hearing loss is challenging to diagnose because of the heterogeneity of the causative genes. Further, some genes involved in hereditary hearing loss have yet to be identified. Using whole-exome analysis of three families with congenital, severe-to-profound hearing loss, we identified a mi...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Mutai, Hideki, Wasano, Koichiro, Momozawa, Yukihide, Kamatani, Yoichiro, Miya, Fuyuki, Masuda, Sawako, Morimoto, Noriko, Nara, Kiyomitsu, Takahashi, Satoe, Tsunoda, Tatsuhiko, Homma, Kazuaki, Kubo, Michiaki, Matsunaga, Tatsuo
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7159186/
https://ncbi.nlm.nih.gov/pubmed/32294086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008643
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados