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Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong

BACKGROUND: GJB2 mutations are among the most important causes of deafness, and their prevalence varies greatly among different countries and ethnic groups. This study aimed to determine the pathogenic mutation spectrum of GJB2 in patients with nonsyndromic hearing loss (NSHL) in Western Guangdong a...

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Detalles Bibliográficos
Autores principales: Liang, Shaoming, Li, Weihong, Chen, Zhichao, Yuan, Shimin, Wang, Zhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422065/
https://www.ncbi.nlm.nih.gov/pubmed/37070846
http://dx.doi.org/10.1002/mgg3.2185