Prevalent connexin 26 gene (GJB2) mutations in Japanese. - Wikidata - wikimedia - TriplyDB

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

http://www.wikidata.org/entity/Q35433439

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Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.First molecular screening of deafness in the Altai Republic population.Molecular epidemiology of DFNB1 deafness in France Connexin hemichannel and pannexin channel electrophysiology: how do they differ?The role of connexins in ear and skin physiology - functional insights from disease-associated mutations Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review Connexin 26 mutations in autosomal recessive deafness disorders: a review 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)Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.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.A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis.Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects GJB2 mutations and degree of hearing loss: a multicenter study.Connexin mutations in skin disease and hearing loss.Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.Functional evaluation of GJB2 variants in nonsyndromic hearing loss.Genetic screening for hearing loss.A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26.The p.Cys169Tyr variant of connexin 26 is not a polymorphism Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss 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 Detection of mutations in genes associated with hearing loss using a microarray-based approach.The genetic bases for non-syndromic hearing loss among Chinese Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.A systematic review and meta-analysis of 235delC mutation of GJB2 gene

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P2860

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

http://www.wikidata.org/entity/Q35433439

description

2000 nî lūn-bûn

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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի հունվարին հրատարակված գիտական հոդված

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2000年の論文

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2000年学术文章

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2000年学术文章

@zh-cn

2000年学术文章

@zh-hans

2000年学术文章

@zh-my

2000年学术文章

@zh-sg

2000年學術文章

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name

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

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Prevalent connexin 26 gene (GJB2) mutations in Japanese.

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Prevalent connexin 26 gene (GJB2) mutations in Japanese.

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Prevalent connexin 26 gene (GJB2) mutations in Japanese.

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Prevalent connexin 26 gene (GJB2) mutations in Japanese.

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Prevalent connexin 26 gene (GJB2) mutations in Japanese.

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P1433

Journal of Medical Genetics

P1476

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

@en

P2093

H Shinkawa

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

P M Kelley

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S Abe

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S Usami

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W J Kimberling

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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).

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

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

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

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

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41-43

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10.1136/JMG.37.1.41

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1

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37

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P577

2000-01-01T00:00:00Z

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277548997

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10633133

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1734448

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