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Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients

26 Mar 2021

Abstract excerpt

Purpose To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. Methods This retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from 16 of them. Targeted next-generation sequencing of the coding and splicing regions of ABCA4 and other phenocopying genes ( ELOVL4 , PROM1 , and CNGB3 ) was performed...

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PMID: 33841504
DOI: 10.3389/fgene.2021.646058

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