Clinical and Molecular Significance of Splice Site Mutations in the Plakophilin 1 Gene in Patients with Ectodermal Dysplasia–Skin Fragility Syndrome

By Wessagowit Vesarat   McGrath John  

Acta Dermato-Venereologica, Vol. 85, Iss. 5, 2005-09 ,pp. : 386-388

Medical Journals Limited

Access to resources Recommend Favorite

A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia

By Zhang X.-J.   Chen J.-J.   Yang S.   Cui Y.   Xiong X.-Y.   He P.-P.   Dong P.-L.   Xu S.-J.   Li Y.-B.   Zhou Q.   Wang Y.   Huang W.  

Journal of Dermatological Science, Vol. 32, Iss. 1, 2003-06 ,pp. : 11-17

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

Novel and Recurrent FERMT1 Gene Mutations in Kindler Syndrome

By Techanukul Tanasit   Sethuraman Gomathy   Zlotogorski Abraham   Horev Liran   Macarov Michal   Trainer Alison   Fong Kenneth   Lens Marko   Medenica Ljiljana   Ramesh Venkatesh   McGrath John A.   Lai-Cheong Joey E.  

Acta Dermato-Venereologica, Vol. 91, Iss. 3, 2011-05 ,pp. : 267-270

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