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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7159186/
https://www.ncbi.nlm.nih.gov/pubmed/32294086
http://dx.doi.org/10.1371/journal.pgen.1008643

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7159186/
https://www.ncbi.nlm.nih.gov/pubmed/32294086
http://dx.doi.org/10.1371/journal.pgen.1008643

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