IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family

BACKGROUND: Nonsyndromic hearing loss (NSHL) is highly heterogeneous, in which more than 90 causative genes have currently been identified. DFNA5 is one of the deafness genes that known to cause autosomal dominant NSHL. Until date, only five DFNA5 mutations have been described in eight families worl...

Descripción completa

Detalles Bibliográficos
Autores principales: Li-Yang, Mei-Na, Shen, Xiao-Fei, Wei, Qin-Jun, Yao, Jun, Lu, Ya-Jie, Cao, Xin, Xing, Guang-Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4725571/
https://www.ncbi.nlm.nih.gov/pubmed/26365971
http://dx.doi.org/10.4103/0366-6999.164980

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4725571/
https://www.ncbi.nlm.nih.gov/pubmed/26365971
http://dx.doi.org/10.4103/0366-6999.164980

Ejemplares similares