A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. - Wikidata - wikimedia - TriplyDB

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

http://www.wikidata.org/entity/Q41882836

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First molecular screening of deafness in the Altai Republic population.Molecular epidemiology of DFNB1 deafness in France C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment.Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)Relevance of connexin deafness (DFNB1) to human evolution.Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.A genotype-phenotype correlation for GJB2 (connexin 26) deafness.Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China The genetic bases for non-syndromic hearing loss among Chinese Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.Evidence for a founder mutation causing DFNA5 hearing loss in East Asians Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea.Prevalence of GBJ2 mutations in patients with severe to profound congenital nonsyndromic sensorineural hearing loss in Bulgarian population.Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment.Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment.Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.BanI/D13S141/D13S175 represents a novel informative haplotype at the GJB2 gene region in the Iranian population.Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography.

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P2860

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

http://www.wikidata.org/entity/Q41882836

description

2001 nî lūn-bûn

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

@zh-hk

2001年論文

@zh-mo

2001年論文

@zh-tw

2001年论文

@wuu

2001年论文

@zh

2001年论文

@zh-cn

name

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

@en

type

label

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

@en

prefLabel

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

@en

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P1433

Journal of Medical Genetics

P1476

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment

@en

P2093

E Fransen

http://www.w3.org/2001/XMLSchema#string

G Caethoven

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G P Chamberlin

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G R Taylor

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J Rowland

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K Flothmann

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L Van Laer

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M Houseman

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P Coucke

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R A Cucci

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P2860

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Connexin-26 mutations in sporadic and inherited sensorineural deafness

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

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics.

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

Cx26 deafness: mutation analysis and clinical variability.

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Genetic epidemiology of hearing impairment.

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.

P304

515-518

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P356

10.1136/JMG.38.8.515

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P407

P433

8

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38

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Paul Van de Heyning

Caroline Van de Heyning

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277549112

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11483639

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