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 at the dermal-epidermal junction, and a candidate protein in this condition. Polymerase chain reaction (PCR)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.