Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

Since 1999, the COCH gene encoding cochlin, has been linked to the autosomal dominant non-syndromic hearing loss, DFNA9, with or without vestibular abnormalities. The hearing impairment associated with the variants affecting gene function has been attributed to a dominant-negative effect. Mutant coc...

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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Danial-Farran, Nada, Chervinsky, Elena, Nadar-Ponniah, Prathamesh T, Cohen Barak, Eran, Taiber, Shahar, Khayat, Morad, Avraham, Karen B., Shalev, Stavit A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer International Publishing 2020
Konular:
Brief Communication
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7868373/
https://ncbi.nlm.nih.gov/pubmed/32939038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00724-6
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