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Article

DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence.

The Journal of investigative dermatology - 1 Apr 1995

Hovnanian A, Hilal L, Blanchet-Bardon C, Bodemer C, de Prost Y, Stark C A, Christiano A M, Dommergues M, Terwilliger J D, Izquierdo L

Abstract excerpt

Linkage analyses in generalized recessive dystrophic epidermolysis bullosa (RDEB) have implicated the type VII collagen gene (COL7A1), which encodes the major component of anchoring fibrils, and recent identification of COL7A1 mutations has provided direct evidence for COL7A1 defects underlying RDEB. In this study, COL7A1 gene analysis was used to successfully perform first-trimester prenatal diagnosis in six...

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PMID: 7706758
DOI: 10.1111/1523-1747.ep12605893

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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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DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence.PMID 7706758Read ↗

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