Francová, H <br/><br/>
New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis.  [electronic resource] 

 -  Journal of inherited metabolic disease  2004 
 - 523-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0141-8955 
<br/><br/><label>Standard No.: </label>10.1023/B:BOLI.0000037337.93335.c4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Base Sequence<br/>Cell Line<br/>Child<br/>Czech Republic<br/>Female<br/>Heterozygote<br/>Humans<br/>Hyperlipoproteinemia Type II--genetics<br/>Liver<br/>Luciferases--genetics<br/>Male<br/>Middle Aged<br/>Mutation<br/>Phenotype<br/>Promoter Regions, Genetic<br/>Receptors, LDL--genetics<br/>TATA Box<br/>Transfection