Concepedia

Identification of a Novel Mutation R42P in the Gap Junction Protein β-3 Associated with Autosomal Dominant Erythrokeratoderma Variabilis

Amanda L Wilgoss, Irene M. Leigh, David P. Kelsell, Michael R. Barnes, Patricia J.C. Dopping-Hepenstal, Robin A.J. Eady, Joanne M. Walter, Cameron Kennedy

Journal of Investigative Dermatology · 1999 · 74 citations · 10 references

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10

Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment

Jia-Hui Xia, Chunyu Liu, Bei-sha Tang et al. · Nature Genetics · 1998 · 426 citations

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Opposite voltage gating polarities of two closely related onnexins

Vytas K. Verselis, Christopher S. Ginter, Thaddeus A. Bargiello · Nature · 1994 · 360 citations

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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Gabriele Richard, Lisa E. Smith, Regina A. Bailey et al. · Nature Genetics · 1998 · 345 citations

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Functional analysis of selective interactions among rodent connexins.

Thomas W. White, David L. Paul, Daniel A. Goodenough et al. · Molecular Biology of the Cell · 1995 · 253 citations · Full text

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Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families

Paul Coucke · Human Molecular Genetics · 1999 · 175 citations · Full text

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