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Sorsby's fundus dystrophy: Reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation

Felbor, U, Benkwitz, C, Klein, M L, Greenberg, J, Gregory, C Y and Weber, Bernhard H. F. (1997) Sorsby's fundus dystrophy: Reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. Archives of Ophthalmology 115 (12), pp. 1569-1571.

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Abstract

Interfamilial phenotypic variations in Sorsby fundus dystrophy (SFD) have given rise to controversy as to whether SFD constitutes more than 1 nosologic entity. The recent identification of the tissue inhibitor of metalloproteinases-3 (TIMP3) as the gene causing SFD has made it possible to readdress the question of genetic and clinical heterogeneity. In this study, we have extended previous ...

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Item type:Article
Date:1997
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1001/archopht.1997.01100160739011DOI
9400791PubMed ID
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:35481
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