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Article

A search for evidence of somatic mutations in the NF1 gene.

Journal of medical genetics - 1 Jan 2000

John A M, Ruggieri M, Ferner R, Upadhyaya M

Abstract excerpt

Neurofibromatosis type I (NF1) is an autosomal dominant disorder affecting 1 in 3000 people. The NF1 gene is located on chromosome 17q11.2, spans 350 kb of genomic DNA, and contains 60 exons. A major phenotypic feature of the disease is the widespread occurrence of benign dermal and plexiform neurofibromas. Genetic and biochemical data support the hypothesis that NF1 acts as a tumour suppressor gene. Molecular...

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

Share to Loss of Heterozygosity

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Source

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Identifiers

PMID: 10633134
DOI: 10.1136/jmg.37.1.44
PMCID: PMC1734445

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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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A search for evidence of somatic mutations in the NF1 gene.PMID 10633134Read ↗

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