Article
DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.
Prenatal diagnosis - 1 May 2000
Rugg E L, Baty D, Shemanko C S, Magee G, Polak S, Bergman R, Kadar T, Boxer M, Falik-Zaccai T, Borochowitz Z, Lane E B
Abstract excerpt
Epidermolysis bullosa simplex (EBS) is a skin fragility disorder in which mild physical trauma leads to blistering. The phenotype of the disorder is variable, from relatively mild affecting only the hands and/or feet, to very severe with widespread blistering. For the severest forms of EBS there is a demand for prenatal diagnosis which until now has involved a fetal skin biopsy in the second trimester. The...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA
- DNA Mutational Analysis
- Epidermis
- Epidermolysis Bullosa Simplex
- Female
- Histidine
- Humans
- Keratin-14
- Keratinocytes