| 1 | NPC1, NPD |
| The Nova Scotia (type D) form of Niemman-Pick disease is caused by a G3097-T transversion in NPC1. | |
| Greer WL, et al. | |
| Am J Hum Genet 63 : 52-54. 1998 | |
| 2 | NPD |
| Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. | |
| Greer WL, Riddell DC, Byers DM, Welch JP, Girouard GS, Sparrow SM, Gillan TL, Neumann PE. | |
| Am J Hum Genet 61(1):139-42. 1997 | |