Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Stargardt disease type 1 (STGD1) is the most common hereditary form of maculopathy and remains untreatable. STGD1 is caused by biallelic variants in the ABCA4 gene, which encodes the ATP-binding cassette (type 4) protein (ABCA4) that clears toxic byproducts of the visual cycle. The c.5461-10T>C p...

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Main Authors: Melita Kaltak (Author), Petra de Bruijn (Author), Davide Piccolo (Author), Sang-Eun Lee (Author), Kalyan Dulla (Author), Thomas Hoogenboezem (Author), Wouter Beumer (Author), Andrew R. Webster (Author), Rob W.J. Collin (Author), Michael E. Cheetham (Author), Gerard Platenburg (Author), Jim Swildens (Author)
Format: Book
Published: Elsevier, 2023-03-01T00:00:00Z.
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