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Article

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.

PLoS genetics - 1 May 2016

Tajnik Mojca, Rogalska Malgorzata Ewa, Bussani Erica, Barbon Elena, Balestra Dario, Pinotti Mirko, Pagani Franco

Abstract excerpt

Mutations that result in amino acid changes can affect both pre-mRNA splicing and protein function. Understanding the combined effect is essential for correct diagnosis and for establishing the most appropriate therapeutic strategy at the molecular level. We have identified a series of disease-causing splicing mutations in coagulation factor IX (FIX) exon 5 that are completely recovered by a modified U1snRNP...

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Source

Open in PubMed Open full text

Identifiers

PMID: 27227676
DOI: 10.1371/journal.pgen.1006082
PMCID: PMC4882169

Genes

SRSF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.PMID 27227676Read ↗

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