Article
Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).
Molecular medicine (Cambridge, Mass.) - 1 Jan 1996
Christiano A M, LaForgia S, Paller A S, McGuire J, Shimizu H, Uitto J
Abstract excerpt
BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic hallmark is abnormalities in the anchoring fibrils, attachment structures beneath the cutaneous ba...
Topics
- Amniocentesis
- Base Sequence
- Chorionic Villi Sampling
- Collagen
- DNA Primers
- DNA, Satellite
- Epidermolysis Bullosa Dystrophica
- Fetus
- Genes, Recessive
- Genetic Diseases, Inborn
- Genotype
- Haplotypes
- Humans
- Molecular Sequence Data
- Mutation