Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.

The generalized mutilating form of recessive dystrophic epidermolysis bullosa (i.e., the Hallopeau-Siemens type; HS-RDEB) is a life-threatening disease characterized by extreme mucocutaneous fragility associated with absent or markedly altered anchoring fibrils (AF). Recently, we reported linkage be...

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Bibliographic Details
Main Authors: Hovnanian, A., Hilal, L., Blanchet-Bardon, C., de Prost, Y., Christiano, A. M., Uitto, J., Goossens, M.
Format: Artigo
Language:Inglês
Published: 1994
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918351/
https://ncbi.nlm.nih.gov/pubmed/8037207
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