The M34T allele variant of connexin 26.

scientific article published in January 2000

The M34T allele variant of connexin 26. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1089/109065700750065063
P8608Fatcat IDrelease_ui57schgcfatpodautatrcurny
P698PubMed publication ID11216656
P5875ResearchGate publication ID12114023

P2093author name stringR J Smith
G Van Camp
G E Green
R A Cucci
S Prasad
P M Kelley
E S Cohn
K Storm
S Willocx
P433issue4
P304page(s)335-344
P577publication date2000-01-01
P1433published inGenetic Testing and Molecular BiomarkersQ15753742
P1476titleThe M34T allele variant of connexin 26.
P478volume4

Reverse relations

cites work (P2860)
Q47298411Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene
Q50482308Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland
Q28293305Connexin 26 mutations in autosomal recessive deafness disorders: a review
Q92503097Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Q47222280DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes
Q48730121Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing
Q30455691Etiology and audiological outcomes at 3 years for 364 children in Australia
Q28187639Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
Q35016960Functional evaluation of GJB2 variants in nonsyndromic hearing loss.
Q28217345GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review
Q30490087Gap-junction channels dysfunction in deafness and hearing loss
Q50487088Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafness.
Q43686402Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families
Q24803748Molecular epidemiology of DFNB1 deafness in France
Q33691804Pathogenetic role of the deafness-related M34T mutation of Cx26.
Q30462691Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.
Q30441969Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid
Q91655019Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families

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