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Article

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden.

Neurogenetics - 1 Oct 2010

Thomas Laura, Kluwe Lan, Chuzhanova Nadia, Mautner Victor, Upadhyaya Meena

Abstract excerpt

Neurofibromatosis type 1, (NF1) is a complex, autosomal dominant disorder characterized by benign and malignant tumors which result from NF1 gene mutations. The molecular mechanisms that underlie NF1 tumorigenesis are still poorly understood although inactivation of other modifying loci in conjunction with NF1 mutations is postulated to be involved. These modifying loci may include deficiencies in mismatch repair...

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Identifiers

PMID: 20358387
DOI: 10.1007/s10048-010-0240-y

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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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