Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.

doi:10.1111/1523-1747.ep12346304

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Article

Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.

The Journal of investigative dermatology - 1 Apr 1996

Christiano A M, Bart B J, Epstein E H, Uitto J

Abstract excerpt

Bart's syndrome was initially described as a genodermatosis characterized by congenital localized absence of the skin, together with blistering and nail abnormalities. Recent analysis of Bart's original kindred demonstrated ultrastructural abnormalities in the anchoring fibrils and linkage of the...

Topics

Amino Acid Sequence
Base Sequence
Collagen
Epidermolysis Bullosa Dystrophica
Female
Humans
Male
Molecular Sequence Data
Mutation
Nails, Malformed
Pedigree
Syndrome

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