Klein, H G <br/><br/>
Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn).  [electronic resource] 

 -  Journal of lipid research  Jan 1993 
 - 49-58 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0022-2275 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Sequence<br/>Base Sequence<br/>Corneal Opacity--genetics<br/>DNA--genetics<br/>DNA Probes<br/>Humans<br/>Lecithin Cholesterol Acyltransferase Deficiency--blood<br/>Lipids--blood<br/>Male<br/>Middle Aged<br/>Molecular Sequence Data<br/>Pedigree<br/>Phosphatidylcholine-Sterol O-Acyltransferase--genetics<br/>Point Mutation<br/>Proteinuria--genetics