Go to content
UR Home

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

Wijesuriya, S D, Evans, K, Jay, M R, Davison, C, Weber, Bernhard H. F. , Bird, A C, Bhattacharya, S S and Gregory, C Y (1996) Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome research 6, pp. 92-101.

[img]
Preview
License: Creative Commons Attribution 4.0
PDF - Published Version
Download (2MB)
Date of publication of this fulltext: 07 Apr 2017 08:08

at publisher (via DOI)

at PubMed


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 ...

plus


Export bibliographical data



Item type:Article
Date:1996
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1101/gr.6.2.92DOI
8919688PubMed 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:35466
Owner only: item control page

Downloads

Downloads per month over past year

  1. Homepage UR

University Library

Publication Server

Contact:

Publishing: oa@ur.de

Dissertations: dissertationen@ur.de

Research data: daten@ur.de

Contact persons