Phenotype description of a novel DFNA9/COCH mutation, I109T.

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Item
http://www.wikidata.org/entity/Q50457155
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunctionExpression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient miceIdentification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.Vestibular function in families with inherited autosomal dominant hearing loss.Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.The Trp117Arg mutation of the COCH gene causes deafness in Koreans.Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Detailed hearing and vestibular profiles in the patients with COCH mutations.Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.
P2860

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Item
http://www.wikidata.org/entity/Q50457155
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Phenotype description of a novel DFNA9/COCH mutation, I109T.
@en
Phenotype description of a novel DFNA9/COCH mutation, I109T.
@nl
type
label
Phenotype description of a novel DFNA9/COCH mutation, I109T.
@en
Phenotype description of a novel DFNA9/COCH mutation, I109T.
@nl
prefLabel
Phenotype description of a novel DFNA9/COCH mutation, I109T.
@en
Phenotype description of a novel DFNA9/COCH mutation, I109T.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Phenotype description of a novel DFNA9/COCH mutation, I109T.
@en
P2093
P2860
P304
P31
P356
10.1177/000348940711600506
P433
P478
P577
P698