TY  - GEN
AU  - Greer,W L
AU  - Riddell,D C
AU  - Gillan,T L
AU  - Girouard,G S
AU  - Sparrow,S M
AU  - Byers,D M
AU  - Dobson,M J
AU  - Neumann,P E
TI  - The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1
SN  - 0002-9297
PY  - 1998///0813
KW  - Alleles
KW  - Carrier Proteins
KW  - Chromosomes, Human, Pair 13
KW  - DNA Mutational Analysis
KW  - Genetic Linkage
KW  - genetics
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Lysosomal Storage Diseases
KW  - Membrane Glycoproteins
KW  - Niemann-Pick C1 Protein
KW  - Niemann-Pick Diseases
KW  - classification
KW  - Nova Scotia
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/301931
ER  -