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

Medical Journals Limited

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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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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

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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Common IL-31 Gene Haplotype Associated with Non-atopic Eczema is Not Implicated in Epidermolysis Bullosa Pruriginosa

By Nagy Nikoletta   Tanaka Akio   Techanukul Tanasit   McGrath John A.  

Acta Dermato-Venereologica, Vol. 90, Iss. 6, 2010-11 ,pp. : 631-632

Medical Journals Limited

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