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Article

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

The Journal of investigative dermatology - 1 Sept 1998

Kon A, Pulkkinen L, Ishida-Yamamoto A, Hashimoto I, Uitto J

Abstract excerpt

Mutations in the type VII collagen gene (COL7A1) have been shown to underlie different variants of dystrophic epidermolysis bullosa (DEB). Examination of the genetic database indicates that most of the mutations are family specific, with few recurrent mutations. To facilitate further refinement of genotype/phenotype correlations in DEB, we have examined a cohort of nine families with DEB (seven recessively and...

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PMID: 9740253
DOI: 10.1046/j.1523-1747.1998.00326.x

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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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Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.PMID 9740253Read ↗

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