Stone, D L <br/><br/>
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.  [electronic resource] 

 -  Human mutation  2000 
 - 181-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Review 
<br/><br/><label>ISSN: </label>1059-7794 
<br/><br/><label>Standard No.: </label>10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Ethnicity--genetics<br/>Exons--genetics<br/>Gaucher Disease--classification<br/>Genes, Lethal--genetics<br/>Genetic Heterogeneity<br/>Glucosylceramidase--genetics<br/>Humans<br/>Infant<br/>Mutation--genetics<br/>Pseudogenes--genetics<br/>Recombinant Fusion Proteins--genetics