The purpose of this contract is to establish a clinical site to be operated. under the National Epidermolysis Bullosa Registry which is aimed at searching for the basic defect, improving methods of diagnosis, and developing effective methods in treatment and prevention of the disease. The clinical site will be responsible for direct contact with E.B. patients and for their enrollment in the Registry. This will include standardized history, physical examination, general laboratory examination, and those specialized studies required for E.B. diagnosis. Determination of the studies required for the diagnosis of E.B. and its subgroups is the responsibility of the Contractor.
| Christiano, A M; LaForgia, S; Paller, A S et al. (1996) Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). Mol Med 2:59-76 |
| Chan, L S; Fine, J D; Hammerberg, C et al. (1995) Defective in vivo expression and apparently normal in vitro expression of a newly identified 105-kDa lower lamina lucida protein in dystrophic epidermolysis bullosa. Br J Dermatol 132:725-9 |
