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Article

Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Sept 2000

Lin G T, Chen S K, Liu C S, Wang W H

Abstract excerpt

BACKGROUND AND PURPOSE: Generalized recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited disease, in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21. The purpose of this study was to identify mutations in COL7A1 in one Taiwanese pedigree...

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PMID: 11000732

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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