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EFEMP1 is not associated with sporadic early onset drusen

Sauer, C G, White, K, Kellner, U, Rudolph, G, Jurklies, B, Pauleikhoff, D and Weber, Bernhard H. F. (2001) EFEMP1 is not associated with sporadic early onset drusen. Ophthalmic Genetics 22, pp. 27-34.

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The early onset of multiple drusen in the posterior pole of the retina is characteristic of a group of macular dystrophies often referred to as dominant or radial drusen. At least two forms, Doyne honeycomb retinal dystrophy (DHRD) and Malattia Leventinese (MLVT), are associated with a single missense mutation (R345W) in the gene encoding the EGF-containing fibulin-like extracellular matrix ...


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Item type:Article
Institutions:Medicine > Lehrstuhl für Humangenetik
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Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35837
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