Authors:
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Authors:
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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
Authors:
Kunz, ME
Rouan, F
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Wiche, G
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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
Authors:
Rouan, F
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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
Authors:
Jonkman, MF
Moreno, G
Rouan, F
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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
Authors:
Takizawa, Y
Shimizu, H
Rouan, F
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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
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