Pagani, F <br/><br/>
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.  [electronic resource] 

 -  Journal of lipid research  Jul 1998 
 - 1382-8 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>0022-2275 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Base Sequence<br/>Child<br/>Cholesterol Ester Storage Disease--enzymology<br/>Exons<br/>Female<br/>Genetic Variation<br/>Humans<br/>Infant<br/>Lipase--genetics<br/>Lysosomes--enzymology<br/>Male<br/>Phenotype<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>Sequence Deletion<br/>Wolman Disease--enzymology