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A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.
Maue RA, Burgess RW, Wang B, Wooley CM, Seburn KL, Vanier MT, Rogers MA, Chang CC, Chang TY, Harris BT, Graber DJ, Penatti CA, Porter DM, Szwergold BS, Henderson LP, Totenhagen JW, Trouard TP, Borbon IA, Erickson RP. Maue RA, et al. Among authors: trouard tp. Hum Mol Genet. 2012 Feb 15;21(4):730-50. doi: 10.1093/hmg/ddr505. Epub 2011 Nov 2. Hum Mol Genet. 2012. PMID: 22048958 Free PMC article.
84 results