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The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

Maugeri, A, Flothmann, K, Hemmrich, N, Ingvast, S, Jorge, P, Paloma, E, Patel, R, Rozet, J-M, Tammur, J, Testa, F, Balcells, S, Bird, A C, Brunner, H G, Hoyng, C B, Metspalu, A, Simonelli, F, Weber, Bernhard H. F. and et. al, . (2002) The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. European Journal of Human Genetics 10 (3), pp. 197-203.

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Abstract

Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene ABCA4 (ABCR) are a common cause of retinal dystrophy. A number of mutations have been repeatedly reported for this gene, notably the 2588G>C mutation which is frequent in both patients and controls. ...

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Item type:Article
Date:2002
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1038/sj.ejhg.5200784DOI
11973624PubMed ID
Keywords:ABCA4; ABCR; carrier frequency; founder mutation; STGD; retinal dystrophies
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:35487
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