Autosomal dominant junctional epidermolysis bullosa-Reference-Cited by-同舟云学术

Autosomal dominant junctional epidermolysis bullosa

Published:2009-05 Issue:5 Volume:160 Page:1094-1097
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Almaani N.,Liu L.,Dopping-Hepenstal P.J.C.,Lovell P.A.,Lai-Cheong J.E.,Graham R.M.,Mellerio J.E.,McGrath J.A.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2008.08977.x/fullpdf

Reference11 articles.

1. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J Am Acad Dermatol,2008

2. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants;Varki;J Med Genet,2006

3. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa;McGrath;Nat Genet,1995

4. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition;McGrath;Am J Pathol,1996

5. Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain;Tasanen;J Invest Dermatol,2000

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