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

doi:10.1038/sj.ejhg.5200784

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Article

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

European journal of human genetics : EJHG - 1 Mar 2002

Maugeri Alessandra, Flothmann Kris, Hemmrich Nadine, Ingvast Sofie, Jorge Paula, Paloma Eva, Patel Reshma, Rozet Jean-Michel, Tammur Jaana, Testa Francesco, Balcells Susana, Bird Alan C, Brunner Han G, Hoyng Carel B, Metspalu Andres, Simonelli Francesca, Allikmets Rando, Bhattacharya Shomi S, D'Urso Michele, Gonzàlez-Duarte Roser, Kaplan Josseline, te Meerman Gerard J, Santos Rosário, Schwartz Marianne, Van Camp Guy, Wadelius Claes, Weber Bernhard H F, Cremers Frans P M

Abstract excerpt

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. Here we ascertained...

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PMID: 11973624
DOI: 10.1038/sj.ejhg.5200784

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ABCA4

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