Krämer, F, White, K, Pauleikhoff, D, Gehrig, A, Passmore, L, Rivera, A, Rudolph, G, Kellner, U, Andrassi, M, Lorenz, B, Rohrschneider, K, Blankenagel, A, Jurklies, B, Schilling, H, Schütt, F, Holz, F G and Weber, Bernhard H. F. 
(2000)
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
European Journal of Human Genetics 8 (4), pp. 286-292.
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Abstract
Recently, the VMD2 gene has been identified as the causative gene in juvenile-onset vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by an impaired function of the retinal pigment epithelium. In this study we have further characterised the spectrum of VMD2 mutations in a series of 41 unrelated Best disease patients. Furthermore we expanded our analysis ...
Export bibliographical data
| Item type: | Article | ||||||
|---|---|---|---|---|---|---|---|
| Date: | 2000 | ||||||
| Institutions: | Medicine > Lehrstuhl für Humangenetik | ||||||
| Identification Number: |
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| Keywords: | VMD2; Best disease; bestrophin; adult vitelliform macular dystrophy; age-related macular degeneration; mutation analysis | ||||||
| Dewey Decimal Classification: | 600 Technology > 610 Medical sciences Medicine | ||||||
| Status: | Published | ||||||
| Refereed: | Yes, this version has been refereed | ||||||
| Created at the University of Regensburg: | Partially | ||||||
| Item ID: | 35486 |
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