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A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy

Felbor, U, Stöhr, H, Amann, T, Schönherr, U, Apfelstedt-Sylla, E and Weber, Bernhard H. F. (1996) A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. Journal of Medical Genetics 33 (3), pp. 233-236.

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Abstract

Sorsby's fundus dystrophy (SFD) is a rare autosomal dominant macular disorder with age of onset usually in the fourth decade. It is characterised by loss of central vision owing to subretinal neovascularisation and disciform macular degeneration. In an effort to identify the SFD gene, the disease locus was first mapped to chromosome 22q13-qter by genetic linkage analysis, the same chromosomal ...

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Item type:Article
Date:1996
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1136/jmg.33.3.233DOI
8728699PubMed 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:35337
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