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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Glycine Substitution Mutations in the COL7A1 Gene: Implications for Inheritance of Dystrophic Epidermolysis Bullosa – Dominant vs. Recessive

By Uitto Jouni  

Acta Dermato-Venereologica, Vol. 91, Iss. 3, 2011-05 ,pp. : 259-261

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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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Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing

By Nagai Makoto   Nagai Hiroshi   Tominaga Chiharu   Sakaguchi Yoshiko   Jitsukawa Orie   Ohgo Noriko   Nishigori Chikako   Yamanishi Kiyofumi  

Acta Dermato-Venereologica, Vol. 95, Iss. 5, 2015-05 ,pp. : 629-631

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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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