Bode, Heiko <br/><br/>
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.  [electronic resource] 

 -  Human molecular genetics  Mar 2016 
 - 853-65 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddv611  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Alanine--chemistry<br/>Catalytic Domain<br/>Child<br/>Gas Chromatography-Mass Spectrometry<br/>Gene Expression<br/>HEK293 Cells<br/>Hereditary Sensory and Autonomic Neuropathies--enzymology<br/>Humans<br/>Isotope Labeling<br/>Middle Aged<br/>Models, Molecular<br/>Mutation<br/>Phenotype<br/>Principal Component Analysis<br/>Recombinant Proteins--blood<br/>Serine--chemistry<br/>Serine C-Palmitoyltransferase--blood<br/>Severity of Illness Index<br/>Sphingolipids--blood<br/>Structural Homology, Protein<br/>Structure-Activity Relationship<br/>Young Adult