Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) displays a high degree of genetic heterogeneity with >100 genes identified. Recently, TMEM132E, which is highly expressed in inner hair cells, was suggested as a novel ARNSHI gene for DFNB99. A missense variant c.1259G>A: p.(Arg42...

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Detaylı Bibliyografya
Yayımlandı:J Hum Genet
Asıl Yazarlar: Liaqat, Khurram, Hussain, Shabir, Bilal, Muhammad, Nasir, Abdul, Acharya, Anushree, Ali, Raja Hussain, Nawaz, Shoaib, Umair, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Singapore 2019
Konular:
Brief Communication
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8216908/
https://ncbi.nlm.nih.gov/pubmed/31656313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-019-0691-4
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