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Article

Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jan 2007

Chao Sheau-Chiou, Lee Julia Yu-Yun

Abstract excerpt

Dystrophic epidermolysis bullosa (DEB) is a hereditary mechanobullous disorder characterized by fragility of the skin and mucous membranes caused by abnormal anchoring fibrils. Both dominant and recessive DEB are caused by mutations in COL7A1, the gene encoding type VII collagen, the major component of anchoring fibrils. We performed mutation analysis of COL7A1 in three patients with recessive DEB. The diagnosis...

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PMID: 17282977
DOI: 10.1016/S0929-6646(09)60222-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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