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

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 fo...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Principais autores: Hovnanian, A, Duquesnoy, P, Amselem, S, Blanchet-Bardon, C, Lathrop, M, Dubertret, L, Goossens, M
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1991
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295711/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1658051/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115489
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