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Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.

Nucleic acid therapeutics - 1 Oct 2022

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

Abstract excerpt

We report two new 6-pyruvoyl-tetrahydropterin synthase splicing variants identified through genomic sequencing and transcript analysis in a patient with tetrahydrobiopterin deficiency, presenting with hyperphenylalaninemia and monoamine neurotransmitter deficiency. Variant c.243 + 3A>G causes exon 4 skipping. The deep-intronic c.164-672C>T variant creates a potential 5' splice site that leads to the inclusion of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35833796
DOI: 10.1089/nat.2021.0066
PMCID: PMC9595628

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