Paper of the Month - June, 2011

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Functional correction of type VI collagen expression in dystrophic epidermolysis bullosa

Murauer EM, Gache Y, Gratz IK et al.
Editor’s note: Recessive dystrophic epidermolysis bullosa (RDEB) is an autosomal recessive disorder characterized by severe mucocutaneous fragility. Patients with severe subtypes are also prone to invasive and aggressive squamous cell carcinomas. All cases involve pathogenic nonsense mutations in the gene, COL7A1, which encodes type VII collagen, the major component of anchoring fibrils at the dermal–epidermal junction.


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