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

URN to cite this document:: urn:nbn:de:bvb:355-epub-354660
DOI to cite this document:: 10.5283/epub.35466

Wijesuriya, S. D. ; Evans, K. ; Jay, M. R. ; Davison, C. ; Weber, Bernhard H. F.

; Bird, A. C. ; Bhattacharya, S. S. ; Gregory, C. Y.

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Date of publication of this fulltext: 07 Apr 2017 08:08

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Abstract

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 ...