Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome
Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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Journal Article
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation
Rouan, F, White, T W, Brown, N, Taylor, A M, Lucke, T W, Paul, D L, Munro, C S, Uitto, J, Hodgins, M B, Richard, G
Published in Journal of cell science (01.06.2001)
Published in Journal of cell science (01.06.2001)
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Journal Article
Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations
Richard, Gabriele, Brown, Nkecha, Rouan, Fatima, Campanelli, Carmen, Uitto, Jouni, Van der Schroeff, Jan-Gerrit, Bijlsma, Emilia, Eichenfield, Lawrence F., Sybert, Virginia P., Greer, Kenneth E., Hogan, Peter, Compton, John G., Bale, Sherri J., DiGiovanna, John J.
Published in Journal of investigative dermatology (01.04.2003)
Published in Journal of investigative dermatology (01.04.2003)
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The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3
Richard, G., Brown, N., Smith, L.E., Terrinoni, A., Melino, G., MacKie, R.M., Bale, S.J., Uitto, J.
Published in Human genetics (30.03.2000)
Published in Human genetics (30.03.2000)
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Journal Article
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-lchthyosis-deafness syndrome
RICHARD, Gabriele, ROUAN, Fatima, RUSSELL, Laura, WILLOUGHBY, Colin E, BROWN, Nkecha, CHUNG, Pil, RYYNÄNEN, Markku, JABS, Ethylin Wang, BALE, Sherri J, DIGIOVANNA, John J, UITTO, Jouni
Published in American journal of human genetics (2002)
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Published in American journal of human genetics (2002)
Journal Article