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Mutations in a Novel Gene, VMD2 ; Encoding a Protein of Unknown Properties Cause Juvenile-Onset Vitelliform Macular Dystrophy (Best's Disease)

Marquardt, A. ; Stöhr, H. ; Passmore, L. A. ; Kramer, F. ; Rivera, A. ; Weber, Bernhard H. F.


Vitelliform macular dystrophy (Best's disease) is an autosomal dominant, early-onset form of macular degeneration in which the primary defect is thought to occur at the level of the retinal pigment epithelium. Genetic linkage has mapped the disease locus to chromosome 11q12-q13.1 within a 980 kb interval flanked by markers at loci D11S4076 and uteroglobin. To identify the disease gene, we ...


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