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Sorsby's fundus dystrophy: Eine genetisch homogene Erkrankung - a genetically homogeneous condition

Felbor, U. ; Weber, Bernhard H. F.



Abstract

Background: The recent identification of the tissue inhibitor of metalloproteinases-3 (TIMP3) as the gene underlying SFD pathology has made it possible to address the question of genetic heterogeneity in this disorder. In addition, it now has become feasible to clarify whether SFD is directly involved in other maculopathies and, in particular, may represent a genetic model for age-related macular ...

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