Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.

doi:10.1172/JCI115489

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Article

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.

The Journal of clinical investigation - 1 Nov 1991

Hovnanian A, Duquesnoy P, Amselem S, Blanchet-Bardon C, Lathrop M, Dubertret L, Goossens M

Abstract excerpt

Generalized recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited autosomal disease characterized by dermolytic blister formation. Enhanced collagenase and/or abnormal collagenase have been reported in skin from affected patients, suggesting that collagenase could be responsible...

Topics

Base Sequence
Epidermolysis Bullosa Dystrophica
Genetic Linkage
Haplotypes
Humans
Microbial Collagenase
Molecular Sequence Data
Phenotype
Polymorphism, Genetic

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