Antisense oligonucleotide rescue of deep-intronic variants activating pseudoexons in the 6-pyruvoyl-tetrahydropterin synthase gene

Ainhoa Martínez-Pizarro, Fátima Leal, Lise Lolle Holm, Thomas K Doktor, Ulrika S S Petersen, María Bueno, Beat Thöny, Belén Pérez, Brage S Andresen, Lourdes R Desviat*

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Biochemistry, Genetics and Molecular Biology