TY  - JOUR
AU  - Martínez-Pizarro, Ainhoa
AU  - Leal, Fátima
AU  - Holm, Lise Lolle
AU  - Doktor, Thomas K
AU  - Petersen, Ulrika S S
AU  - Bueno, María
AU  - Thöny, Beat
AU  - Pérez, Belén
AU  - Andresen, Brage S
AU  - Desviat, Lourdes R
PY  - 2022
DO  - 10.1089/nat.2021.0066
UR  - http://hdl.handle.net/10668/19703
T2  - Nucleic acid therapeutics
AB  - 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...
LA  - en
KW  - antisense oligonucleotides
KW  - pseudoexons
KW  - splicing
KW  - tetrahydrobiopterin
KW  - Humans
KW  - RNA Splice Sites
KW  - Oligonucleotides, Antisense
KW  - Phosphorus-Oxygen Lyases
KW  - Exons
KW  - Introns
KW  - RNA Splicing
KW  - Mutation
KW  - Oligonucleotides
TI  - Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.
TY  - research article
VL  - 32
ER  -