Somatic activating mutations in MAP2K1 cause melorheostosis

Melorheostosis is a sporadic disease of uncertain etiology characterized by asymmetric bone overgrowth and functional impairment. Using whole exome sequencing, we identify somatic mosaic MAP2K1 mutations in affected, but not unaffected, bone of eight unrelated patients with melorheostosis. The activ...

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Publicado en:Nat Commun
Autores principales: Kang, Heeseog, Jha, Smita, Deng, Zuoming, Fratzl-Zelman, Nadja, Cabral, Wayne A., Ivovic, Aleksandra, Meylan, Françoise, Hanson, Eric P., Lange, Eileen, Katz, James, Roschger, Paul, Klaushofer, Klaus, Cowen, Edward W., Siegel, Richard M., Marini, Joan C., Bhattacharyya, Timothy
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5895796/
https://ncbi.nlm.nih.gov/pubmed/29643386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-03720-z
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