Article
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family.
Prenatal diagnosis - 1 Jul 1995
McGrath J A, McMillan J R, Dunnill M G, Pulkkinen L, Christiano A M, Rodeck C H, Eady R A, Uitto J
Abstract excerpt
Fetal skin biopsy at 20 weeks' gestation in a woman at risk for a child with the lethal skin-blistering disorder junctional epidermolysis bullosa (Herlitz) confirmed an affected fetus. Genomic DNA from the aborted fetus was examined for mutations in laminin 5, a macromolecule involved in adhesion...
Topics
- Adult
- Alleles
- Base Sequence
- Biopsy
- DNA
- Electrophoresis, Polyacrylamide Gel
- Epidermolysis Bullosa, Junctional
- Female
- Fetal Diseases
- Fluorescent Antibody Technique
- Humans
- Laminin
- Microscopy, Electron
- Molecular Sequence Data
- Mutation