Evolutionary origin of pathogenic GJB2 alleles in China
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14191
Abstract: The frequency of the pathogenic allele of the autosomal recessive deafness gene GJB2 varies among different populations in the world, and accumulates to a sufficiently high frequency in certain population. The purpose of this study… read more here.
Keywords: pathogenic gjb2; gjb2 235delc; 109g allele; gjb2 ... See more keywords
Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.647240
Abstract: Objective To report the phenotypic heterogeneity of GJB2 c.235delC homozygotes associated with post-lingual and/or milder hearing loss, and explore the possible mechanism of these unconditional phenotypes. Methods Mutation screening of GJB2 was performed on all… read more here.
Keywords: hearing loss; gjb2 235delc; post lingual; heterogeneity ... See more keywords