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Article

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.

PloS one - 1 Jan 2015

Hernández-Imaz Elisabete, Martín Yolanda, de Conti Laura, Melean German, Valero Ana, Baralle Marco, Hernández-Chico Concepción

Abstract excerpt

Neurofibromatosis type 1 (NF1) is one of the most common human hereditary disorders, predisposing individuals to the development of benign and malignant tumors in the nervous system, as well as other clinical manifestations. NF1 is caused by heterozygous mutations in the NF1 gene and around 25% of the pathogenic changes affect pre-mRNA splicing. Since the molecular mechanisms affected by these mutations are...

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Identifiers

PMID: 26509978
DOI: 10.1371/journal.pone.0141735
PMCID: PMC4624989

Genes

SRSF2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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