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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Nat Commun
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2018
Sujets:
Article
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires