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Article

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.

Genome research - 1 Feb 1996

Wijesuriya S D, Evans K, Jay M R, Davison C, Weber B H, Bird A C, Bhattacharya S S, Gregory C Y

Abstract excerpt

Sorsby's fundus dystrophy (SFD) has been mapped to a genetic interval of 8 cM between loci D22S275 and D22S278. A total of 15 families, unrelated on the basis of genealogy and expressing the SFD phenotype were identified from a large data base of genetic eye disease families originating from diverse parts of the British Isles. The identification of the same Ser181Cys mutation cosegregating with disease in each...

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Source

Identifiers

PMID: 8919688
DOI: 10.1101/gr.6.2.92

Genes

TIMP3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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