A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

Item
http://www.wikidata.org/entity/Q42516614
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairmentGap junctional coupling is essential for epithelial repair in the avian cochlea.Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss AssociationPrevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?Do cell junction protein mutations cause an airway phenotype in mice or humans?Inherited hearing loss: molecular genetics and diagnostic testing.Connexins and gap junctions in the inner ear--it's not just about K⁺ recyclingA novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.Diagnostic pitfalls for -related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss
P2860

A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

Item
http://www.wikidata.org/entity/Q42516614
description
2007 nî lūn-bûn
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2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年學術文章
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2007年學術文章
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name
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
@en
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
@nl
type
label
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
@en
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
@nl
prefLabel
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
@en
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932