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• (author = "Fransen, E")
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A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment

Author(s) : Van Laer, Lut , Coucke, Paul , Mueller, RF , Caethoven, G , Flothmann, K , Prasad, SD , Chamberlin, GP , Houseman, M , Taylor, GR
Description : Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of this gene, the 35delG allele, is particularly common in white populations. We report evidence that the h...
Repository : Ghent University Repository , View repository documents
Language(s) : English
Subject(s) : Biology and Life Sciences , GJB2 , connexin 26 , 35delG , founder effect , AUTOSOMAL-RECESSIVE DEAFNESS , SENSORINEURAL DEAFNESS , CHILDHOOD DEAFNESS , EUROPEAN POPULATIONS , CARRIER FREQUENCY , UNITED-STATES , DFNB1 , JAPANESE , FAMILIES , FORM
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Source(s) : JOURNAL OF MEDICAL GENETICS , ISSN: 0022-2593
Publication Date(s) : 2001-01-01