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Article

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.

Journal of dermatological science - 1 Jun 2007

Dang Ningning, Klingberg Sandra, Marr Penelope, Murrell Dédée F

Abstract excerpt

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is an inherited skin fragility disorder where blistering occurs in the sub-lamina densa zone at the level of anchoring fibrils (AFs) of the dermo-epidermal junction. Both autosomal dominant (DDEB) and recessive (RDEB) result from mutations in the type VII collagen gene (COL7A1). OBJECTIVE: The purpose of this study was to understand the genotype-phenotype...

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Identifiers

PMID: 17425959
DOI: 10.1016/j.jdermsci.2007.02.006

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Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.PMID 17425959Read ↗

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