Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?

Abstract excerpt

BACKGROUND: Recessive Stargardt disease is due to mutation in the retina-specific ABC transporter gene. Established strategies for molecular characterization of this gene include direct detection by a microarray interrogating approximately 500 DNA variations and a scanning denaturing HPLC methodology. METHODS: Because 11 mutations were recorded to account for approximately 50% of molecular defects in the Italian...

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