A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss
about
A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.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.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.Sequencing of exons 4, 5, 12 of COCH gene in patients with postlingual sensorineural hearing loss accompanied by vestibular lesion.
P2860
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P2860
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss
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2010 nî lūn-bûn
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2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
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2010年论文
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name
A novel mutation in COCH-impli ...... elations in DFNA9 hearing loss
@ast
A novel mutation in COCH-impli ...... elations in DFNA9 hearing loss
@en
type
label
A novel mutation in COCH-impli ...... elations in DFNA9 hearing loss
@ast
A novel mutation in COCH-impli ...... elations in DFNA9 hearing loss
@en
prefLabel
A novel mutation in COCH-impli ...... elations in DFNA9 hearing loss
@ast
A novel mutation in COCH-impli ...... elations in DFNA9 hearing loss
@en
P2093
P2860
P356
P1433
P1476
A novel mutation in COCH-impli ...... elations in DFNA9 hearing loss
@en
P2093
A Eliot Shearer
Dietrich Stephan
Jennifer A Webster
Luke Gandolfo
Maren Jensen
Melanie Bahlo
Patrick L M Huygen
Richard J H Smith
William J Kimberling
P2860
P304
P356
10.1002/LARY.21159
P407
P577
2010-12-01T00:00:00Z