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

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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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New Glycine Substitution Mutations in Type VII Collagen Underlying Epidermolysis Bullosa Pruriginosa but the Phenotype is not Explained by a Common Polymorphism in the Matrix Metalloproteinase-1 Gene Promoter

By Almaani Noor   Liu Lu   Harrison Naomi   Tanaka Akio   Lai-Cheong Joey E.   Mellerio Jemima E.   McGrath John A.  

Acta Dermato-Venereologica, Vol. 89, Iss. 1, 2009-01 ,pp. : 6-11

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Phenotypic Complexity of Epidermolysis Bullosa: The Paradigm of the Pruriginosa Subtype

By Uitto Jouni  

Acta Dermato-Venereologica, Vol. 89, Iss. 1, 2009-01 ,pp. : 4-5

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A Novel Splice Site Mutation in Collagen Type VII Gene in a Chinese Family with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa

By Jiang Wei   Bu Dingfang   Yang Yong   Zhu Xuejun  

Acta Dermato-Venereologica, Vol. 82, Iss. 3, 2002-05 ,pp. : 187-191

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