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...
मुख्य लेखकों: | , , , , , |
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स्वरूप: | लेख |
भाषा: | English |
प्रकाशित: |
Public Library of Science (PLoS)
2015-01-01
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श्रृंखला: | PLoS ONE |
ऑनलाइन पहुंच: | http://europepmc.org/articles/PMC4510057?pdf=render |