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

Mutational analysis of patients with neurofibromatosis 2.

American journal of human genetics - 1 Aug 1994

MacCollin M, Ramesh V, Jacoby L B, Louis D N, Rubio M P, Pulaski K, Trofatter J A, Short M P, Bove C, Eldridge R

Abstract excerpt

Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member of the protein 4.1 family of cytoskeletal associated proteins, which we have named merlin. To define the molecular basis of NF2 in affected individuals, we have used SSCP analysis to scan the exons of the NF2...

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 Mutational Analysis

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

Share to Membrane Proteins

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Point Mutation

Share to Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 7913580
PMCID: PMC1918355

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

Mutational analysis of patients with neurofibromatosis 2.PMID 7913580Read ↗

DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.Semantic proximity Read ↗

Exon scanning for mutation of the NF2 gene in schwannomas.Semantic proximity Read ↗

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.Semantic proximity Read ↗

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

Frequency and distribution of NF2 mutations in schwannomas.Semantic proximity Read ↗

Familial schwannomatosisSemantic proximity Read ↗

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

Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin.Semantic proximity Read ↗

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

Screening for large mutations of the NF2 gene.Semantic proximity Read ↗

Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicineSemantic proximity Read ↗

Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2.Semantic proximity Read ↗

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