Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

Article

Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

American journal of human genetics - 1 Nov 1991

Ryynänen M, Knowlton R G, Uitto J

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 17
Epidermolysis Bullosa
Female
Genetic Linkage
Humans
Keratins
Male
Multigene Family
Mutation
Pedigree
Polymorphism, Restriction Fragment Length

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