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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Pandit B, et al. Among authors: ackerman mj. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483
Molecular evolution of the junctophilin gene family.
Garbino A, van Oort RJ, Dixit SS, Landstrom AP, Ackerman MJ, Wehrens XH. Garbino A, et al. Among authors: ackerman mj. Physiol Genomics. 2009 May 13;37(3):175-86. doi: 10.1152/physiolgenomics.00017.2009. Epub 2009 Mar 24. Physiol Genomics. 2009. PMID: 19318539 Free PMC article.
876 results