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

Felbor, U and Weber, Bernhard H. F. (1998) Sorsby's fundus dystrophy: Eine genetisch homogene Erkrankung - a genetically homogeneous condition. Der Ophthalmologe 95 (5), pp. 287-290.

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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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Item type:Article
Date:1998
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1007/s003470050274DOI
9643018PubMed ID
Keywords:Sorsby fundus dystrophy; Age-related macular degeneration; Chromosome 22q13-qter; TIMP3 gene
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:35496
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