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A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa.
Ruzzi L, Pas H, Posteraro P, Mazzanti C, Didona B, Owaribe K, Meneguzzi G, Zambruno G, Castiglia D, D'Alessio M. Ruzzi L, et al. Among authors: didona b. J Invest Dermatol. 2001 Jan;116(1):182-7. doi: 10.1046/j.1523-1747.2001.00229.x. J Invest Dermatol. 2001. PMID: 11168815 Free article.
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Ashton GH, et al. Among authors: didona b. J Invest Dermatol. 2004 Jan;122(1):78-83. doi: 10.1046/j.0022-202X.2003.22136.x. J Invest Dermatol. 2004. PMID: 14962093 Free article.
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
Has C, Wessagowit V, Pascucci M, Baer C, Didona B, Wilhelm C, Pedicelli C, Locatelli A, Kohlhase J, Ashton GH, Tadini G, Zambruno G, Bruckner-Tuderman L, McGrath JA, Castiglia D. Has C, et al. Among authors: didona b. J Invest Dermatol. 2006 Aug;126(8):1776-83. doi: 10.1038/sj.jid.5700339. Epub 2006 May 4. J Invest Dermatol. 2006. PMID: 16675959 Free article.
121 results