Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness

BACKGROUND: Transmembrane inner ear (TMIE) protein is an essential component of the mechanotransduction complex. In collaboration with other components, TMIE aids the maintenance and function of the sensory hair cells. Autosomal recessive deafness-6 (DFNB6) is caused by mutated TMIE, a gene in the h...

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Detalles Bibliográficos
Autores principales: Rayat, Sima, Farhadi, Mohammad, Emamdjomeh, Hessamaldin, Morovvati, Saeid, Falah, Masoumeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204965/
https://www.ncbi.nlm.nih.gov/pubmed/35710363
http://dx.doi.org/10.1186/s12920-022-01287-9

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