ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia

Author:

Abe Masataka,Sawamura Daisuke,Goto Maki,Nakamura Hideki,Nagasaki Akari,Nomura Yukiko,Kawasaki Hiroyuki,Isogai Rieko,Shimizu Hiroshi

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. Revised classification system for inherited epidermolysis bullosa: report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa;Fine;J Am Acad Dermatol,2000

2. Pathogenesis of mechanobullous disorders;Bruckner-Tuderman;Exp Dermatol,1992

3. Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa;Jonkman;J Invest Dermatol,1992

4. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia;Vidal;Nat Genet,1995

5. Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia;Pulkkinen;Lab Invest,1997

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