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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 and Weber, Bernhard H. F. (1998) Mutations in a Novel Gene, VMD2 ; Encoding a Protein of Unknown Properties Cause Juvenile-Onset Vitelliform Macular Dystrophy (Best's Disease). Human Molecular Genetics 7 (9), pp. 1517-1525.

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Abstract

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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Item type:Article
Date:1998
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1093/hmg/7.9.1517DOI
9700209PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35448
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