AAAAAA

   
Results: 1-7 |
Results: 7
Trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation
Authors: Rouan, F White, TW Brown, N Taylor, AV Lucke, TW Paul, DL Munro, CS Uitto, J Hodgins, MB Richard, G
Citation: F. Rouan et al., Trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation, J CELL SCI, 114(11), 2001, pp. 2105-2113
A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency
Authors: Bauer, JW Rouan, F Kofler, B Rezniczek, GA Kornacker, I Muss, W Hametner, R Klausegger, A Huber, A Pohla-Gubo, G Wiche, G Uitto, J Hintner, H
Citation: Jw. Bauer et al., A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency, AM J PATH, 158(2), 2001, pp. 617-625
Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene
Authors: Kunz, ME Rouan, F Pulkkinen, L Hamm, H Jeschke, R Bruckner-Tuderman, L Brocker, EB Wiche, G Uitto, J Zillikens, D
Citation: Me. Kunz et al., Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene, J INVES DER, 114(2), 2000, pp. 376-380
Epidermolysis bullosa: Novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy
Authors: Rouan, F Pulkkinen, L Meneguzzi, G LaForgia, S Hyde, P Kim, DU Richard, G Uitto, J
Citation: F. Rouan et al., Epidermolysis bullosa: Novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy, J INVES DER, 114(2), 2000, pp. 381-387
Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)
Authors: Jonkman, MF Moreno, G Rouan, F Oranje, AP Pulkkinen, L Uitto, J
Citation: Mf. Jonkman et al., Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1), J INVES DER, 112(5), 1999, pp. 815-817
Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests
Authors: Takizawa, Y Shimizu, H Rouan, F Kawai, M Udono, M Pulkkinen, L Nishikawa, T Uitto, J
Citation: Y. Takizawa et al., Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests, J INVES DER, 112(1), 1999, pp. 109-112
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for geneticcounseling
Authors: Rouan, F Pulkkinen, L Jonkman, MF Bauer, JW Cserhalmi-Friedman, PB Christiano, AM Uitto, J
Citation: F. Rouan et al., Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for geneticcounseling, J INVES DER, 111(6), 1998, pp. 1210-1213
Risultati: 1-7 |