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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: pas h. 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.
LAD-1 is absent in a subset of junctional epidermolysis bullosa patients.
Marinkovich MP, Tran HH, Rao SK, Giudice GJ, Balding S, Jonkman MF, Pas HH, McGuire JS, Herron GS, Bruckner-Tuderman L. Marinkovich MP, et al. Among authors: pas hh. J Invest Dermatol. 1997 Sep;109(3):356-9. doi: 10.1111/1523-1747.ep12336033. J Invest Dermatol. 1997. PMID: 9284104 Free article.
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, Uitto J, Sadowski S, Collins F, Widmer R, Jonkman MF. Murrell DF, et al. Among authors: pas hh. J Invest Dermatol. 2007 Jul;127(7):1772-5. doi: 10.1038/sj.jid.5700766. Epub 2007 Mar 8. J Invest Dermatol. 2007. PMID: 17344927 Free article. No abstract available.
237 results