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Article

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

Human genetics - 1 Feb 2003

Wang Qing, Montmain Gilles, Ruano Eric, Upadhyaya Meena, Dudley Sandra, Liskay R Michael, Thibodeau Stephen N, Puisieux Alain

Abstract excerpt

DNA mismatch repair (MMR) is the process by which incorrectly paired DNA nucleotides are recognized and repaired. A germline mutation in one of the genes involved in the process may be responsible for a dominantly inherited cancer syndrome, hereditary nonpolyposis colon cancer. Cancer progression in predisposed individuals results from the somatic inactivation of the normal copy of the MMR gene, leading to a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12522551
DOI: 10.1007/s00439-002-0858-4

Genes

MLH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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