Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Autosomal dominant non-syndromic hearing loss (ADNSHL) is highly heterogeneous, among them, KCNQ4 is one of the most frequent disease-causing genes. More than twenty KCNQ4 mutations have been reported, but none of them were detected in Chinese mainland families. In this study, we identified a novel...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Wang, Hongyang, Zhao, Yali, Yi, Yuting, Gao, Yun, Liu, Qiong, Wang, Dayong, Li, Qian, Lan, Lan, Li, Na, Guan, Jing, Yin, Zifang, Han, Bing, Zhao, Feifan, Zong, Liang, Xiong, Wenping, Yu, Lan, Song, Lijie, Yi, Xin, Yang, Ling, Petit, Christine, Wang, Qiuju
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2014
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4130520/
https://ncbi.nlm.nih.gov/pubmed/25116015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0103133
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak