![A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations]()
A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutationsMaue, R. A.; Burgess, R. W.; Wang, B.; Wooley, C. M.; Seburn, K. L.; Vanier, M. T.; Rogers, M. A.; Chang, C. C.; Chang, T.-Y.; Harris, B. T.; Graber, D. J.; Penatti, C. A. A.; Porter, D. M.; Szwergold, B. S.; Henderson, L. P.; Totenhagen, J. W.; Trouard, T. P.; Borbon, I. A.; Erickson, R. P. · Human Molecular Genetics · 2012