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

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite

Immunofluorescence studies using skin sections of recessive dystrophic epidermolysis bullosa patients indicated that the antigen of anti-p200 pemphigoid is not a fragment of type VII collagen

By Liu Y.   Shimizu H.   Hashimoto T.  

Journal of Dermatological Science, Vol. 32, Iss. 2, 2003-08 ,pp. : 125-129

Elsevier

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite