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Article

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

Human molecular genetics - 1 May 1994

Bourn D, Carter S A, Mason S, Gareth D, Evans R, Strachan T

Abstract excerpt

The recent identification of the NF2 tumour suppressor gene has enabled large scale screening for pathological mutations in the gene. We have sought germline mutations in the NF2 gene by SSCP and heteroduplex analysis of cDNA and genomic DNA samples followed by cloning and sequencing of mutant alleles. In the present report we describe 11 putative pathological mutations, including five nonsense mutations, three...

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Identifiers

PMID: 8081368
DOI: 10.1093/hmg/3.5.813

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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.

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