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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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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Genotype–Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa

By Jiang Wei   Sun Ting-Ting   Lei Peng-Cheng   Zhu Xue-Jun  

Acta Dermato-Venereologica, Vol. 92, Iss. 1, 2012-01 ,pp. : 50-53

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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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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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