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Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
Kern JS, Grüninger G, Imsak R, Müller ML, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has C. Kern JS, et al. Among authors: schumann h. Br J Dermatol. 2009 Nov;161(5):1089-97. doi: 10.1111/j.1365-2133.2009.09333.x. Epub 2009 Jun 5. Br J Dermatol. 2009. PMID: 19681861
A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin.
Hammami-Hauasli N, Kalinke DU, Schumann H, Kalinke U, Pontz BF, Anton-Lamprecht I, Pulkkinen L, Zimmermann M, Uitto J, Bruckner-Tuderman L. Hammami-Hauasli N, et al. Among authors: schumann h. J Invest Dermatol. 1997 Sep;109(3):384-9. doi: 10.1111/1523-1747.ep12336264. J Invest Dermatol. 1997. PMID: 9284109 Free article.
441 results