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Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Human mutation - 1 Feb 2004

Upadhyaya Meena, Han Song, Consoli Claudia, Majounie Elisa, Horan Martin, Thomas Nick S, Potts Christopher, Griffiths Sian, Ruggieri Martino, von Deimling Andreas, Cooper David N

Abstract excerpt

One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors from 31 NF1 patients were screened for gross changes in the NF1 gene using microsatellite/restriction fragment length polymorphism (RFLP) markers; loss of...

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PMID: 14722917
DOI: 10.1002/humu.10305

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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