Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
about
The role of connexins in ear and skin physiology - functional insights from disease-associated mutationsExome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.Digenic inheritance in medical geneticsUnraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletionsDFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment
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P2860
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
description
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2011 թուականին հրատարակուած գիտական յօդուած
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2011 թվականին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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name
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
@ast
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
@en
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
@nl
type
label
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
@ast
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
@en
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
@nl
prefLabel
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
@ast
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
@en
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
@nl
P2860
P3181
P1433
P1476
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
@en
P2093
Iris Schrijver
Juan Rodriguez-Paris
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0021665
P407
P577
2011-06-29T00:00:00Z