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

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 exo...

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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Mary Ann Liebert, Inc., publishers 2022
Materias:	Original Papers
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9595628/ https://www.ncbi.nlm.nih.gov/pubmed/35833796 http://dx.doi.org/10.1089/nat.2021.0066

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