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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Genes (Basel)
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2019
Soggetti:
Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6826470/
https://ncbi.nlm.nih.gov/pubmed/31547530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10100735
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi