R75Q dominant mutation in GJB2 gene silenced by the in cis recessive mutation c.35delG
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference11 articles.
1. Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss;Chinetti;Int J Audiol,2010
2. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment;del Castillo;J Med Genet,2005
3. Connexin 26 gene linked to a dominant deafness;Denoyelle;Nature,1998
4. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness;Feldmann;Am J Med Genet Part A,2005
5. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG;Gasparini;Eur J Hum Genet,2000
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation;Frontiers in Cell and Developmental Biology;2021-02-26
2. GEMPROT: visualization of the impact on the protein of the genetic variants found on each haplotype;Bioinformatics;2018-12-03
3. Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK);Current Research in Translational Medicine;2016-04
4. Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene;Experimental & Molecular Medicine;2015-06
5. Autosomal Dominant Hearing Loss resulting from p.R75Q Mutation in theGJB2Gene: Nonsyndromic presentation in a South Indian Family;Annals of Human Genetics;2014-11-13
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