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Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease

Erdheim-Chester disease (ECD) is a rare histiocytic disorder that is challenging to diagnose and treat. We performed molecular analysis of BRAF in the largest cohort of ECD patients studied to date followed by N/KRAS, PIK3CA, and AKT1 mutational analysis in BRAF wild-type patients. Forty-six of 80 (...

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Publicat a:Blood
Autors principals: Emile, Jean-François, Diamond, Eli L., Hélias-Rodzewicz, Zofia, Cohen-Aubart, Fleur, Charlotte, Frédéric, Hyman, David M., Kim, Eunhee, Rampal, Raajit, Patel, Minal, Ganzel, Chezi, Aumann, Shlomzion, Faucher, Gladwys, Le Gall, Catherine, Leroy, Karen, Colombat, Magali, Kahn, Jean-Emmanuel, Trad, Salim, Nizard, Philippe, Donadieu, Jean, Taly, Valérie, Amoura, Zahir, Abdel-Wahab, Omar, Haroche, Julien
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4224196/
https://ncbi.nlm.nih.gov/pubmed/25150293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-04-570937
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