Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.

We report the genetic analysis of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss in a Chinese family. Using whole exome sequencing, we identified a missense variant (c.130C>T, p.R44C) in the MCM2 gene, which has a pro-apoptosis effect and is involved in the initiation of...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Juanjuan Gao, Qi Wang, Cheng Dong, Siqi Chen, Yu Qi, Yuhe Liu
स्वरूप: लेख
भाषा:English
प्रकाशित: Public Library of Science (PLoS) 2015-01-01
श्रृंखला:PLoS ONE
ऑनलाइन पहुंच:http://europepmc.org/articles/PMC4510057?pdf=render