Lack of collagen α6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation

Congenital hearing loss affects 1 in every 1000 births, with genetic mutations contributing to more than 50% of all cases. X-linked nonsyndromic hereditary hearing loss is associated with six loci (DFNX1-6) and five genes. Recently, the missense mutation (c.1771G>A, p.Gly591Ser) in COL4A6, encodi...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Tang, Shaoying, Yonezawa, Tomoko, Maeda, Yukihide, Ono, Mitsuaki, Maeba, Takahiro, Miyoshi, Toru, Momota, Ryusuke, Tomono, Yasuko, Oohashi, Toshitaka
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2021
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8043391/
https://ncbi.nlm.nih.gov/pubmed/33848312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0249909
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