A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report

Non-syndromic hearing loss (NSHL) is a hereditary disorder that affects many populations. Many genes are involved in NSHL and the mutational load of these genes often differs among ethnic groups. Claudin-14 (CLDN14), a tight junction protein, is known to be associated with NSHL in many populations....

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Detalles Bibliográficos
Autores principales: Mohamed, Walaa Kamal Eldin, Mahfood, Mona, Al Mutery, Abdullah, Abdallah, Sallam Hasan, Tlili, Abdelaziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856671/
https://www.ncbi.nlm.nih.gov/pubmed/31781163
http://dx.doi.org/10.3389/fgene.2019.01087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856671/
https://www.ncbi.nlm.nih.gov/pubmed/31781163
http://dx.doi.org/10.3389/fgene.2019.01087

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