Epidermolysis Bullosa Pruriginosa due to a Glycine Substitution Mutation in the COL7A1-gene

By Broekaert Sigrid M.C.   Knauss-Scherwitz Evelin   Biedermann Tilo   Metzler Gisela   Has Cristina   Kohlhase Jürgen   Röcken Martin   Schaller Martin  

Acta Dermato-Venereologica, Vol. 86, Iss. 6, 2006-11 ,pp. : 556-557

Medical Journals Limited

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Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa

By Kim J.   Kim S.-C.   Yasukawa K.   Shimizu H.  

Journal of Dermatological Science, Vol. 33, Iss. 3, 2003-12 ,pp. : 180-183

Elsevier

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Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

By Almaani Noor   Liu Lu   Dopping-Hepenstal Patricia J.C.   Lai-Cheong Joey E.   Wong Alvin   Nanda Arti   Moss Celia   Martinez Anna E.   Mellerio Jemima E.   McGrath John A.  

Acta Dermato-Venereologica, Vol. 91, Iss. 3, 2011-05 ,pp. : 262-266

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Bullous Dermolysis of the Newborn and Dystrophic Epidermolysis Bullosa Pruriginosa within the Same Family: Two Phenotypes Associated with a COL7A1 Mutation

By Murase Kana   Kanoh Hiroyuki   Ishii Norito   Hashimoto Takashi   Nakano Hajime   Sawamura Daisuke   Seishima Mariko  

Acta Dermato-Venereologica, Vol. 91, Iss. 6, 2011-11 ,pp. : 730-731

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A Novel Insertion Mutation in COL7A1 Identified in Hallopeau-Siemens Recessive Dystrophic Epidermolysis Bullosa

By Sato-Matsumura Kazuko   Sawamura Daisuke   Goto Mikio   Goto Maki   Nakamura Hideki   Shimizu Hiroshi  

Acta Dermato-Venereologica, Vol. 83, Iss. 2, 2003-01 ,pp. : 137-138

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