Genetic Basis of Bart's Syndrome: A glycine Substitution Mutation in the Type VII Collagen Gene
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference17 articles.
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2. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome;Bart;Arch Dermatol,1966
3. Cloning of human type VII collagen. Complete primary sequence of the α1 (VII) chain and identification of intragenic polymorphisms;Christiano;J Biol Chem,1994
4. Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene;Christiano;Genomics,1994
5. Dominant dystrophic epidermolysis bullosa: identification of a glycine-to-serine substitution in the triple-helical domain of type VII collagen;Christiano;Proc Natl Acad Sci USA,1994
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