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

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.

American journal of human genetics - 1 Jul 1994

Bourn D, Carter S A, Evans D G, Goodship J, Coakham H, Strachan T

Abstract excerpt

We have sought mutations in the recently identified neurofibromatosis type 2 (NF2) tumor-suppressor gene in a large panel of NF2 patients, using PCR-based SSCP and heteroduplex analysis, followed by cloning and sequencing of appropriate PCR products. Two unrelated NF2 patients were found to have identical nonsense mutations caused by a C-to-T transition in a CpG dinucleotide that is a potential mutational hot...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence

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

Share to DNA Mutational Analysis

Share to Molecular Sequence Data

Share to Nucleic Acid Conformation

Share to Pedigree

Share to Phenotype

Share to Point Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 8023853
PMCID: PMC1918220

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

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.PMID 8023853Read ↗

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.Semantic proximity Read ↗

Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas.Semantic proximity Read ↗

Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.Semantic proximity Read ↗

Six novel mutations in the NF2 tumor suppressor gene.Semantic proximity Read ↗

Screening for germ-line mutations in the NF2 gene.Semantic proximity Read ↗

Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes.Semantic proximity Read ↗

Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations.Semantic proximity Read ↗

Mutational analysis of patients with neurofibromatosis 2.Semantic proximity Read ↗

A point mutation associated with a severe phenotype of neurofibromatosis 2.Semantic proximity Read ↗

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.Semantic proximity Read ↗

A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.Semantic proximity Read ↗

Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.Semantic proximity Read ↗

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