Article
Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.
American journal of human genetics - 1 Oct 1991
Ryynänen M, Knowlton R G, Parente M G, Chung L C, Chu M L, Uitto J
Abstract excerpt
Epidermolysis bullosa (EB) is a heterogeneous group of heritable blistering disorders affecting the skin and the mucous membranes. Previous ultrastructural studies on the dystrophic (scarring) forms of EB have demonstrated abnormalities in the anchoring fibrils, morphologically distinct structure...
Topics
- Blotting, Southern
- Chromosomes, Human, Pair 3
- Collagen
- Deoxyribonucleases, Type II Site-Specific
- Epidermolysis Bullosa Dystrophica
- Female
- Genes, Dominant
- Genetic Linkage
- Humans
- Hybrid Cells
- Male
- Nucleic Acid Hybridization
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length
- White People