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

Medical Journals Limited

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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

Medical Journals Limited

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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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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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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

Medical Journals Limited

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