(Q44989767)

8 December 2017

title

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population (English)

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8 December 2017

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Sung-Hee Han

1

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8 December 2017

Hong-Joon Park

2

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8 December 2017

Eun-Joo Kang

3

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8 December 2017

Jae-Song Ryu

4

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8 December 2017

Anna Lee

5

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8 December 2017

Young-Ho Yang

6

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8 December 2017

Kyoung-Ryul Lee

7

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8 December 2017

publication date

2 December 2008

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Journal of Human Genetics

8 December 2017

published in

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8 December 2017

volume

53

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8 December 2017

issue

11-12

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8 December 2017

page(s)

1022-1028

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https://scigraph.springernature.com/pub.10.1007/s10038-008-0342-7

8 December 2017

exact match

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cites work

Connexin 26 Gene Mutations in Congenitally Deaf Children

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-008-0342-7

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-008-0342-7

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

21 January 2018

1 reference

12 December 2020

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals

1 reference

12 December 2020

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

12 December 2020

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness

1 reference

12 December 2020

Functional analysis of connexin-26 mutants associated with hereditary recessive deafness

1 reference

12 December 2020

Nonsyndromic hearing impairment: unparalleled heterogeneity

1 reference

12 December 2020

GJB2 mutations and degree of hearing loss: a multicenter study

1 reference

12 December 2020

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

1 reference

12 December 2020

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

1 reference

12 December 2020

The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece

1 reference

12 December 2020

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

1 reference

12 December 2020

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges

1 reference

12 December 2020

Prevalent connexin 26 gene (GJB2) mutations in Japanese

1 reference

12 December 2020

Hearing loss: frequency and functional studies of the most common connexin26 alleles.

1 reference

12 December 2020

Identification of 605ins46, a novel GJB2 mutation in a Japanese family.

1 reference

12 December 2020

Molecular epidemiology of DFNB1 deafness in France

1 reference

12 December 2020

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.

1 reference

12 December 2020

The prevalence of the 235delC GJB2 mutation in a Chinese deaf population.

1 reference

12 December 2020

Nomenclature for the description of human sequence variations.

1 reference

12 December 2020

GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China.

1 reference

12 December 2020

Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa

1 reference

12 December 2020

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

1 reference

12 December 2020

Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype?

1 reference

12 December 2020

GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.

1 reference

12 December 2020

Connexin26 mutations associated with nonsyndromic hearing loss.

1 reference

12 December 2020

Molecular genetics of hearing loss

1 reference

12 December 2020

Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.

1 reference

12 December 2020

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children

1 reference

12 December 2020

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

1 reference

12 December 2020

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

1 reference

12 December 2020

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

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12 December 2020

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness

1 reference

12 December 2020

A genetic approach to understanding auditory function

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12 December 2020

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

1 reference

12 December 2020

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

1 reference

12 December 2020

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls

1 reference

12 December 2020

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians

1 reference

12 December 2020

Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population.

1 reference

12 December 2020

First molecular screening of deafness in the Altai Republic population

1 reference

12 December 2020

Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.

1 reference

12 December 2020

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome

1 reference

12 December 2020

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

1 reference

12 December 2020

10.1007/S10038-008-0342-7

Identifiers

DOI

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8 December 2017

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