A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.
about
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.Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.Distinct vestibular phenotypes in DFNA9 families with COCH variants.Detailed hearing and vestibular profiles in the patients with COCH mutations.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860
Q30364085-5D401035-B8A5-4DAF-8FE1-FA218A1CD9F5Q35216395-78A8D77C-9FB7-4711-949C-8CAE7E6D97FBQ38845134-279AE7E8-E916-4A80-9DAD-F51A05542889Q49538316-7C8F7ECC-C271-4BD5-9952-125EAD5403A5Q49957568-36B32BD3-AAB6-457B-88BF-DFC756AF4274Q50317229-F1122072-5CC3-4066-AC2C-6D9ACC39A30EQ50352876-C1CE59B6-91A2-4BA1-96AC-BD90DEAEEA23Q57455558-FA1CDC03-D22B-485C-ACBE-38EE6705E6AD
P2860
A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
A novel COCH mutation associat ...... stability of the vWFA2 domain
@nl
A novel COCH mutation associat ...... stability of the vWFA2 domain.
@ast
A novel COCH mutation associat ...... stability of the vWFA2 domain.
@en
A novel COCH mutation associat ...... stability of the vWFA2 domain.
@en-gb
type
label
A novel COCH mutation associat ...... stability of the vWFA2 domain
@nl
A novel COCH mutation associat ...... stability of the vWFA2 domain.
@ast
A novel COCH mutation associat ...... stability of the vWFA2 domain.
@en
A novel COCH mutation associat ...... stability of the vWFA2 domain.
@en-gb
prefLabel
A novel COCH mutation associat ...... stability of the vWFA2 domain
@nl
A novel COCH mutation associat ...... stability of the vWFA2 domain.
@ast
A novel COCH mutation associat ...... stability of the vWFA2 domain.
@en
A novel COCH mutation associat ...... stability of the vWFA2 domain.
@en-gb
P2093
P2860
P50
P1476
A novel COCH mutation associat ...... stability of the vWFA2 domain.
@en
P2093
Beom Sik Kang
Cynthia C Morton
Hong-Joon Park
Hyun-Ju Cho
Jeong-In Baek
Kyu-Yup Lee
László Patthy
Maria Trexler
Nahid G Robertson
Un-Kyung Kim
P2860
P2888
P304
P356
10.1007/S00109-012-0911-2
P407
P5008
P577
2012-05-19T00:00:00Z
P5875
P6179
1010010463