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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
Collagen XVII.
Has C, Kern JS. Has C, et al. Dermatol Clin. 2010 Jan;28(1):61-6. doi: 10.1016/j.det.2009.10.007. Dermatol Clin. 2010. PMID: 19945617
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H. Natsuga K, et al. Among authors: has c. Hum Mutat. 2010 Mar;31(3):308-16. doi: 10.1002/humu.21189. Hum Mutat. 2010. PMID: 20052759
Plectin is a cytoskeletal linker protein that has a dumbbell-like structure with a long central rod and N- and C-terminal globular domains. ...In EBS-PA, expression of all plectin domains was found to be markedly attenuated or completely lost; in EBS-MD, the express …
Plectin is a cytoskeletal linker protein that has a dumbbell-like structure with a long central rod and N- and C-terminal glob …
312 results