Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

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David P. Kelsell, John Dunlop, Howard P. Stevens et al. · Nature · 1997 · 1.5K citations

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Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

JoAnn Bergoffen, S. S. Scherer, S. Wang et al. · Science · 1993 · 1.1K citations

Medicine, Genetics, Molecular Genetics +16

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Françoise Denoyelle, Dominique Weil, Marion A. Maw et al. · Human Molecular Genetics · 1997 · 636 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

Leopoldo Zelante · Human Molecular Genetics · 1997 · 627 citations

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Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

Brenda Richards, Joel Skoletsky, Anthony P. Shuber et al. · Human Molecular Genetics · 1993 · 414 citations

Medicine, Genetics, Molecular Genetics +15