Hulková, H <br/><br/>
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.  [electronic resource] 

 -  Human molecular genetics  Apr 2001 
 - 927-40 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0964-6906 
<br/><br/><label>Standard No.: </label>10.1093/hmg/10.9.927  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Antigens, CD<br/>Base Sequence<br/>Codon<br/>DNA Primers--chemistry<br/>Female<br/>Fibroblasts--metabolism<br/>Gangliosides--metabolism<br/>Glycolipids--metabolism<br/>Glycoproteins--deficiency<br/>Glycosphingolipids--metabolism<br/>Humans<br/>Infant, Newborn<br/>Lactosylceramides--biosynthesis<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Polymerase Chain Reaction<br/>Saposins<br/>Sphingolipidoses--genetics<br/>Sulfoglycosphingolipids--metabolism