Article

Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in <i>ABCA4</i>

2022-08-12

Abstract excerpt

<h4>ABSTRACT</h4> The c.5461-10T>C p.[Thr1821Aspfs*6,Thr1821Valfs*13] variant has been identified as the most common severe Stargardt disease type 1 (STGD1)-associated variant in ABCA4 . STGD1 is the most recurrent hereditary form of maculopathy and so far, no treatment is available for STGD1. In STGD1 patients homozygous for this variant, the onset of the disease typically is in childhood and patients are legal...

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Literature Corpus work: b81470eb-cb5c-5ac1-beeb-029fae83b5d4
DOI: 10.1101/2022.08.12.503728

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