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 chil...
Topics
- Base Sequence
- Chorionic Villi Sampling
- DNA Mutational Analysis
- Epidermolysis Bullosa Dystrophica
- Female
- Fetal Diseases
- Haplotypes
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Pregnancy
- Pregnancy Trimester, First