Exon scanning for mutation of the NF2 gene in schwannomas.

doi:10.1093/hmg/3.3.413

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Article

Exon scanning for mutation of the NF2 gene in schwannomas.

Human molecular genetics - 1 Mar 1994

Jacoby L B, MacCollin M, Louis D N, Mohney T, Rubio M P, Pulaski K, Trofatter J A, Kley N, Seizinger B, Ramesh V

Abstract excerpt

Family studies and tumor analyses have combined to indicate that neurofibromatosis 2 (NF2), a disorder characterized by multiple benign tumors of the nervous system, and sporadic non-inherited forms of the same tumor types are both caused by inactivation of a tumor suppressor gene located in 22q1...

Topics

Alternative Splicing
Base Sequence
DNA
Exons
Genes, Neurofibromatosis 2
Humans
Introns
Membrane Proteins
Molecular Sequence Data
Mutation
Neoplasm Proteins
Neurilemmoma
Neurofibromin 2
Polymerase Chain Reaction
Polymorphism, Genetic

Source

Open in PubMed

Identifiers

PMID: 8012353
DOI: 10.1093/hmg/3.3.413

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8012353-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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