Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation

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Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation

BRAF mutation testing to determine eligibility for treatment with vemurafenib was performed on archival skin lesions of a 54-year-old patient diagnosed with Erdheim-Chester disease (ECD) in 1999. Sanger sequencing of DNA extracted from a 2008 skin lesion identified two non-contiguous base substituti...

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Bibliographic Details
Main Authors:	Bentel, J., Thomas, M., Rodgers, J., Arooj, Mahreen, Gray, E., Allcock, R., Fermoyle, S., Mancera, R., Cannell, P., Parry, J.
Format:	Journal Article
Published:	British Medical Journal Publishing Group 2017
Online Access:	http://hdl.handle.net/20.500.11937/53296

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