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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: has c. 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 plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome.
Abdalla EM, Has C. Abdalla EM, et al. Among authors: has c. Mol Syndromol. 2014 Dec;5(6):304-6. doi: 10.1159/000369267. Epub 2014 Nov 28. Mol Syndromol. 2014. PMID: 25565931 Free PMC article.
Direct sequencing of the amplified DNA from the affected cases disclosed a G-to-T transversion at nucleotide position c.203-1 within intron 1 of PKP1 (c.203-1G>T). To the best of our knowledge, this mutation has not been previously described in the databas …
Direct sequencing of the amplified DNA from the affected cases disclosed a G-to-T transversion at nucleotide position c.203-1 within …
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Among authors: has c. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717
297 results