Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations

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

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

Genetics, X-linked Charcot-marie-tooth Disease, Pathology +16

A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment

Ignacio del Castillo, Manuela Villamar, Miguel A. Moreno‐Pelayo et al. · New England Journal of Medicine · 2002 · 582 citations · Full text

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

Buccal Brushes/swabs, Engineering, Immunology +22

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

Gabriele Richard, Fatima Rouan, Colin E. Willoughby et al. · The American Journal of Human Genetics · 2002 · 369 citations · Full text

Missense Mutations, Genetic Disorder, Pathogenesis +4

Opposite voltage gating polarities of two closely related onnexins

Vytas K. Verselis, Christopher S. Ginter, Thaddeus A. Bargiello · Nature · 1994 · 359 citations

Hyperpolarization (Biology), Electrophysiology, Intercellular Communication +2