Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
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Life cycle of connexins in health and diseaseGJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE reviewA fully atomistic model of the Cx32 connexonNovel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists.Frail hypotheses in evolutionary biology.The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosisA comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian populationMolecular basis of autosomal recessive diseases among the Palestinian Arabs.Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.GJB2 gene mutations in childhood deafness.Cx26 deafness: mutation analysis and clinical variability.Connexinopathies: a structural and functional glimpseAn overview of hereditary hearing loss.Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.Do cell junction protein mutations cause an airway phenotype in mice or humans?Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates.A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment.Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness.Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.BanI/D13S141/D13S175 represents a novel informative haplotype at the GJB2 gene region in the Iranian population.Auditory measurements in parents of individuals with autosomal recessive hearing loss.Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.Determination of the frequency of the 35delG allele in Brazilian neonates.Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.The effect of population stratification on the frequency of compound heterozygosity.Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia
P2860
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P2860
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Two different connexin 26 muta ...... udies in isolated populations.
@en
Two different connexin 26 muta ...... udies in isolated populations.
@nl
type
label
Two different connexin 26 muta ...... udies in isolated populations.
@en
Two different connexin 26 muta ...... udies in isolated populations.
@nl
prefLabel
Two different connexin 26 muta ...... udies in isolated populations.
@en
Two different connexin 26 muta ...... udies in isolated populations.
@nl
P2093
P2860
P356
P1476
Two different connexin 26 muta ...... udies in isolated populations.
@en
P2093
A Chakravarti
J Zlotogora
M M Carrasquillo
P2860
P304
P356
10.1093/HMG/6.12.2163
P577
1997-11-01T00:00:00Z