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Sangermano, Riccardo et al. Ophthalmology.

Sangermano, Riccardo et al. Ophthalmology. 2016 Mar

Riccardo Sangermano and colleagues conduct analyses to  elucidate the functional effect of the ABCA4 variant c.5461-10T>C, one of the most frequent variants associated with Stargardt disease (STGD1). Based on their results and phenotype in persons homozygous for this variant, they concluded that this variant results in the absence of ABCA4 activity.



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