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Article

Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa.

Clinical and experimental dermatology - 1 May 1999

Ashton G H, Mellerio J E, Dunnill M G, Milana G, Mayou B J, Carrera J, McGrath J A, Eady R A

Abstract excerpt

In this study we searched for mutations in the type VII collagen gene (COL7A1) in 10 families from Southern Italy with severe generalised recessive dystrophic epidermolysis bullosa using PCR amplification of genomic DNA, heteroduplex analysis and direct nucleotide sequencing. Our principal aim was to identify any recurrent mutations in COL7A1 that might facilitate future mutation detection strategies in this...

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Source

Identifiers

PMID: 10354186
DOI: 10.1046/j.1365-2230.1999.00461.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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa.PMID 10354186Read ↗

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