Cargando…
GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
BACKGROUND: Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups. METHODS: In order to understand the spectrum and frequency of GJB2 mutations in the Ch...
Autores principales: | Dai, Pu, Yu, Fei, Han, Bing, Liu, Xuezhong, Wang, Guojian, Li, Qi, Yuan, Yongyi, Liu, Xin, Huang, Deliang, Kang, Dongyang, Zhang, Xin, Yuan, Huijun, Yao, Kun, Hao, Jinsheng, He, Jia, He, Yong, Wang, Youqin, Ye, Qing, Yu, Youjun, Lin, Hongyan, Liu, Lijia, Deng, Wei, Zhu, Xiuhui, You, Yiwen, Cui, Jinghong, Hou, Nongsheng, Xu, Xuehai, Zhang, Jin, Tang, Liang, Song, Rendong, Lin, Yongjun, Sun, Shuanzhu, Zhang, Ruining, Wu, Hao, Ma, Yuebing, Zhu, Shanxiang, Wu, Bai-lin, Han, Dongyi, Wong, Lee-Jun C |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2009
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2679712/ https://www.ncbi.nlm.nih.gov/pubmed/19366456 http://dx.doi.org/10.1186/1479-5876-7-26 |
Ejemplares similares
-
Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
por: Yuan, Yongyi, et al.
Publicado: (2010) -
Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China
por: Xin, Feng, et al.
Publicado: (2013) -
Common Molecular Etiologies Are Rare in Nonsyndromic Tibetan Chinese Patients with Hearing Impairment
por: Yuan, Yongyi, et al.
Publicado: (2012) -
Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population
por: Ebrahimkhani, Somayeh, et al.
Publicado: (2021) -
KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects
por: Zhao, Jiandong, et al.
Publicado: (2014)