Schnabel, D <br/><br/>
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.  [electronic resource] 

 -  FEBS letters  Jun 1991 
 - 57-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0014-5793 
<br/><br/><label>Standard No.: </label>10.1016/0014-5793(91)80760-z  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Blotting, Northern<br/>Cells, Cultured<br/>DNA<br/>Exons<br/>Female<br/>Gaucher Disease--genetics<br/>Glycoproteins--genetics<br/>Humans<br/>Molecular Sequence Data<br/>Mutation<br/>Phenotype<br/>Saposins<br/>Sphingolipid Activator Proteins