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...
| Main Authors: | , , , , , , , , , |
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| Format: | Journal Article |
| Published: |
British Medical Journal Publishing Group
2017
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| Online Access: | http://hdl.handle.net/20.500.11937/53296 |