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Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
Terracina M, Posteraro P, Schubert M, Sonego G, Atzori F, Zambruno G, Bruckner-Tuderman L, Castiglia D. Terracina M, et al. Among authors: zambruno g. J Invest Dermatol. 1998 Nov;111(5):744-50. doi: 10.1046/j.1523-1747.1998.00397.x. J Invest Dermatol. 1998. PMID: 9804332 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: zambruno g. 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.
310 results