A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2

BACKGROUND: Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. Mutations in KCNQ4 underlie deafness non-syndromic autosomal dominant 2, a subty...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Bangqing, Liu, Yanping, Gao, Xue, Xu, Jincao, Dai, Pu, Zhu, Qingwen, Yuan, Yongyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5366164/
https://www.ncbi.nlm.nih.gov/pubmed/28340560
http://dx.doi.org/10.1186/s12881-017-0396-5

Ejemplares similares

Ejemplares similares