Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process

The development of next generation sequencing techniques has facilitated the detection of mutations at an unprecedented rate. These efficient tools have been particularly beneficial for extremely heterogeneous disorders such as autosomal recessive non-syndromic hearing loss, the most common form of...

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Detalles Bibliográficos
Autores principales: Mahfood, Mona, Chouchen, Jihen, Kamal Eddine Ahmad Mohamed, Walaa, Al Mutery, Abdullah, Harati, Rania, Tlili, Abdelaziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8324942/
https://www.ncbi.nlm.nih.gov/pubmed/34354426
http://dx.doi.org/10.1016/j.sjbs.2021.04.036

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8324942/
https://www.ncbi.nlm.nih.gov/pubmed/34354426
http://dx.doi.org/10.1016/j.sjbs.2021.04.036

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