The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. [electronic resource]
Producer: 19980813Description: 52-4 p. digitalISSN:- 0002-9297
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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