Greer, W L <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/301931  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Carrier Proteins<br/>Chromosomes, Human, Pair 13<br/>DNA Mutational Analysis<br/>Genetic Linkage--genetics<br/>Humans<br/>Intracellular Signaling Peptides and Proteins<br/>Lysosomal Storage Diseases--genetics<br/>Membrane Glycoproteins<br/>Niemann-Pick C1 Protein<br/>Niemann-Pick Diseases--classification<br/>Nova Scotia<br/>Point Mutation--genetics<br/>Polymerase Chain Reaction<br/>Proteins--genetics