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

Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene.

Human molecular genetics - 1 Apr 1995

Purandare S M, Lanyon W G, Arngrimsson R, Connor J M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to DNA Primers
Share to Genes, Neurofibromatosis 1
Share to Introns

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

Share to Molecular Sequence Data

Share to Mutation

Share to RNA Splicing

Source

Identifiers

PMID: 7633431
DOI: 10.1093/hmg/4.4.767

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

Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene.PMID 7633431Read ↗

Ten base pair duplication in exon 38 of the NF1 gene.Semantic proximity Read ↗

Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1.Semantic proximity Read ↗

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.Semantic proximity Read ↗

A novel splice-site mutation in NFKB1 presenting as common variable immunodeficiency and postoperative hyperinflammation responsive to anti-IL-1 therapy.Semantic proximity Read ↗

Exon skipping mutations in neurofibromatosis.Semantic proximity Read ↗

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.Semantic proximity Read ↗

A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.Semantic proximity Read ↗

Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.Semantic proximity Read ↗

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.Semantic proximity Read ↗

Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.Semantic proximity Read ↗

Two single base polymorphisms in introns 41 and 16 of the NF1 gene.Semantic proximity Read ↗

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.Semantic proximity Read ↗

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