Concepedia

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

Gabriele Richard, Nkecha Brown, Fatima Rouan, Carmen Campanelli, Jouni Uitto, Jan-Gerrit van der Schroeff, Emilia Bijlsma, Lawrence F. Eichenfield, Virginia P. Sybert, Kenneth E. Greer,

Journal of Investigative Dermatology · 2003 · 129 citations · 29 references

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References

29

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

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

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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 · 585 citations · Full text

, , +13

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

, , +15

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 · 373 citations · Full text

, , +12

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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