The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

Greer, W L

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. [electronic resource] - American journal of human genetics Jul 1998 - 52-4 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0002-9297

10.1086/301931 doi


Alleles
Carrier Proteins
Chromosomes, Human, Pair 13
DNA Mutational Analysis
Genetic Linkage--genetics
Humans
Intracellular Signaling Peptides and Proteins
Lysosomal Storage Diseases--genetics
Membrane Glycoproteins
Niemann-Pick C1 Protein
Niemann-Pick Diseases--classification
Nova Scotia
Point Mutation--genetics
Polymerase Chain Reaction
Proteins--genetics