Article
DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence.
The Journal of investigative dermatology - 1 Apr 1995
Hovnanian A, Hilal L, Blanchet-Bardon C, Bodemer C, de Prost Y, Stark C A, Christiano A M, Dommergues M, Terwilliger J D, Izquierdo L
Abstract excerpt
Linkage analyses in generalized recessive dystrophic epidermolysis bullosa (RDEB) have implicated the type VII collagen gene (COL7A1), which encodes the major component of anchoring fibrils, and recent identification of COL7A1 mutations has provided direct evidence for COL7A1 defects underlying R...
Topics
- Base Sequence
- Collagen
- Epidermolysis Bullosa Dystrophica
- Female
- Genetic Linkage
- Genetic Markers
- Genotype
- Humans
- Molecular Sequence Data
- Mutation
- Pregnancy
- Prenatal Diagnosis
- Recurrence