Sun, X M <br/><br/>
A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).  [electronic resource] 

 -  Human molecular genetics  Nov 1995 
 - 2125-9 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/4.11.2125  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Base Sequence<br/>Binding Sites<br/>Cell Line<br/>DNA<br/>Female<br/>Heterozygote<br/>Humans<br/>Hyperlipoproteinemia Type II--genetics<br/>Male<br/>Middle Aged<br/>Molecular Sequence Data<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Promoter Regions, Genetic<br/>RNA, Messenger--metabolism<br/>Receptors, LDL--genetics<br/>Sp1 Transcription Factor--metabolism<br/>Transfection