Cargando…
A screening analysis of the GJB2 c.176 del 16 mutation responsible for hereditary deafness in a Chinese family
OBJECTIVE: To determine whether a new-born child from a family carrying a deafness gene needs cochlear implantation to avoid dysphonia by screening and sequencing a deafness-related gene. RESULTS: Both screening and sequencing results confirmed that the new born child had a normal GJB2 gene despite...
Autores principales: | Jiang, Hao, Shi, Xi, Qiu, Shiwei, Dong, Yanfen, Qiao, Yuehua, Wei, Dongzhi |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Chinese PLA General Hospital
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002618/ https://www.ncbi.nlm.nih.gov/pubmed/29937822 http://dx.doi.org/10.1016/j.joto.2016.09.002 |
Ejemplares similares
-
The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice
por: Li, Qing, et al.
Publicado: (2023) -
Polymorphism of the 86th amino acid in CX26 protein and hereditary deafness
por: Shi, Xi, et al.
Publicado: (2016) -
GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
por: Tingang Wonkam, Edmond, et al.
Publicado: (2019) -
Local Macrophage-Related Immune Response Is Involved in Cochlear Epithelial Damage in Distinct Gjb2-Related Hereditary Deafness Models
por: Xu, Kai, et al.
Publicado: (2021) -
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations
por: Yu, Xiaoyu, et al.
Publicado: (2020)