Article

<i>ABCA4-</i>Related Retinopathies in Lebanon: a novel mutation and significant heterogeneity

2023-11-10

Abstract excerpt

Mutations in ATP-binding cassette transporter type A4 ( ABCA4 ) have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known as ABCA4 retinopathies. ABCA4 is a sizeable locus harboring 50 exons; thus, its analysis has revealed a rich area of genetic information comprising at least 1,200 disease-causing mutations of varied severity and types....

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Literature Corpus work: 0a9a6006-86e6-527a-ac67-810daa038be5
DOI: 10.1101/2023.11.09.23298241

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