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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Detalles Bibliográficos
Autores principales: Liaqat, Khurram, Hussain, Shabir, Bilal, Muhammad, Nasir, Abdul, Acharya, Anushree, Ali, Raja Hussain, Nawaz, Shoaib, Umair, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2019
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8216908/
https://www.ncbi.nlm.nih.gov/pubmed/31656313
http://dx.doi.org/10.1038/s10038-019-0691-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8216908/
https://www.ncbi.nlm.nih.gov/pubmed/31656313
http://dx.doi.org/10.1038/s10038-019-0691-4

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