[Sorsby's fundus dystrophy. A genetically homogeneous disease].

doi:10.1007/s003470050274

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Article

[Sorsby's fundus dystrophy. A genetically homogeneous disease].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 May 1998

Felbor U, Weber B H

Abstract excerpt

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 inv...

Topics

Adult
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 22
DNA Mutational Analysis
Female
Genes, Dominant
Humans
Macular Degeneration
Male
Models, Genetic
Phenotype
Tissue Inhibitor of Metalloproteinase-3

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