Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH
DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the COCH (coagulation factor C homology) gene. In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensor...
Saved in:
Main Authors: | Xiaodong Gu, Wenling Su, Mingliang Tang, Luo Guo, Liping Zhao, Huawei Li |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2016-01-01
|
Series: | Neural Plasticity |
Online Access: | http://dx.doi.org/10.1155/2016/5310192 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
MASSIVE, OPEN, ONLINE: LEARNING PARALLEL OR TOGETHER?
by: Ivan Yu. Travkin
Published: (2016-12-01) -
Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations.
by: Federica Mosti, et al.
Published: (2025-01-01) -
A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family
by: Shaoyi Mei, et al.
Published: (2019-01-01) -
Methods of massive parallel reporter assays for investigation of enhancers
by: S. E. Romanov, et al.
Published: (2021-06-01) -
A Massively Parallel SMC Sampler for Decision Trees
by: Efthyvoulos Drousiotis, et al.
Published: (2025-01-01)