Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort

Variants of the LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was conducted on 8074 Japanese hearing loss patients util...

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Detalles Bibliográficos
Autores principales: Maekawa, Karuna, Nishio, Shin-ya, Abe, Satoko, Goto, Shin-ichi, Honkura, Yohei, Iwasaki, Satoshi, Kanda, Yukihiko, Kobayashi, Yumiko, Oka, Shin-ichiro, Okami, Mayuri, Oshikawa, Chie, Sakuma, Naoko, Sano, Hajime, Shirakura, Masayuki, Uehara, Natsumi, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826470/
https://www.ncbi.nlm.nih.gov/pubmed/31547530
http://dx.doi.org/10.3390/genes10100735

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826470/
https://www.ncbi.nlm.nih.gov/pubmed/31547530
http://dx.doi.org/10.3390/genes10100735

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