Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization.

Human mutation - 1 Mar 2006

Raponi M, Upadhyaya M, Baralle D

Abstract excerpt

Genomic variations with no apparent effect ("neutral polymorphisms") may have a significant effect on splicing. The effect of this type of mutation is difficult to spot, unless a functional assay is undertaken. In our study, DNA sequencing of a patient with clinically defined neurofibromatosis type 1 (NF1) showed only a single polymorphism in intron 30 due to an A>G transition 279 nucleotides from the 3' splice...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exons
Share to Genes, Neurofibromatosis 1
Share to Genetic Techniques

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Introns

Share to Neural Networks, Computer

Share to Neurofibromatosis 1

Share to RNA Splicing

Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 16470740
DOI: 10.1002/humu.9412

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization.PMID 16470740Read ↗

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.Semantic proximity Read ↗

Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.Semantic proximity Read ↗

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.Semantic proximity Read ↗

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.Semantic proximity Read ↗

Exon skipping mutations in neurofibromatosis.Semantic proximity Read ↗

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 VariantsSemantic proximity Read ↗

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

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.Semantic proximity Read ↗

In vivo and In vitro methods to identify DNA sequence variants that alter RNA Splicing.Semantic proximity Read ↗

Identification of a mutation that perturbs <i>NF1</i> agene splicing using genomic DNA samples and a minigene assaySemantic proximity Read ↗

Pathogenic Neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseqSemantic proximity Read ↗

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.