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Article

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Human mutation - 1 Oct 2006

Maertens Ophélia, Brems Hilde, Vandesompele Jo, De Raedt Thomas, Heyns Ine, Rosenbaum Thorsten, De Schepper Sofie, De Paepe Anne, Mortier Geert, Janssens Sandra, Speleman Frank, Legius Eric, Messiaen Ludwine

Abstract excerpt

Neurofibromatosis type 1 (NF1) is mainly characterized by the occurrence of benign peripheral nerve sheath tumors or neurofibromas. Thorough investigation of the somatic mutation spectrum has thus far been hampered by the large size of the NF1 gene and the considerable proportion of NF1 heterozygous cells within the tumors. We developed an improved somatic mutation detection strategy on cultured Schwann cells...

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PMID: 16941471
DOI: 10.1002/humu.20389

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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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