New ABCR Mutations and Clinical Phenotype in Italian Patients with Stargardt Disease

To assess the mutation spectrum in the ABCR gene and clinical phenotypes in Italian families with autosomal recessive Stargardt disease (STGD1) and fundus flavimaculatus (FFM). Eleven families from southern Italy, including 18 patients with diagnoses of STGD1, were clinically examined. Ophthalmologi...

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Veröffentlicht in:Investigative ophthalmology & visual science 2000-03, Vol.41 (3), p.892-897
Hauptverfasser: Simonelli, Francesca, Testa, Francesco, Giuseppe de Crecchio, Rinaldi, Ernesto, Hutchinson, Amy, Atkinson, Andrew, Dean, Michael, D’Urso, Michele, Allikmets, Rando
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Sprache:eng
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