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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: posteraro p. 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.
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: posteraro p. 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.
41 results