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European Journal of Human Genetics
Article . 2000 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
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European Journal of Human Genetics
Article . 2000 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
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Erratum: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

Authors: D P, Kelsell; A L, Wilgoss; G, Richard; H P, Stevens; C S, Munro; I M, Leigh;

Erratum: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

Abstract

Recently, mutations in two gap junction genes, GJB2 and GJB3 (encoding Connexin 26 and Connexin 31, respectively), have been shown to underlie either inherited hearing loss and skin disease or both disorders. In this study, we have extended our analysis of a small family in which palmoplantar keratoderma and various forms of deafness is segregating. In addition to the previously described sequence variant M34T in GJB2, two other sequence variants were identified: D66H also in GJB2 and R32W in GJB3. As D66H segregated with the skin disease, it is likely to underlie the palmoplantar keratoderma. The other two gap junction variants identified may contribute to the type of hearing impairment and the variable severity of the skin disease in the family.

Keywords

Male, DNA Mutational Analysis, DNA, Heteroduplex Analysis, Deafness, Connexins, Pedigree, Connexin 26, Keratoderma, Palmoplantar, Mutation, Humans, Point Mutation, Female

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    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    97
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    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
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    Top 10%
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
97
Top 10%
Top 10%
Top 1%
bronze