Article
First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.
The British journal of dermatology - 1 Apr 1996
McGrath J A, Dunnill M G, Christiano A M, Lake B D, Atherton D J, Rodeck C H, Pope F M, Eady R A, Uitto J
Abstract excerpt
A 28-year-old woman, who previously had had a child affected with the hereditary blistering skin disorder, recessive dystrophic epidermolysis bullosa, presented at 7 weeks' gestation for prenatal diagnosis. Genomic DNA, obtained from her, her husband (who is a first cousin), their unaffected child, and their previously affected child, was used to screen all 118 exons of the type VII collagen gene (COL7A1) by...
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