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pubmed-article:18701038pubmed:abstractTextFamilial hypercholesterolemia (FH), caused by low density lipoprotein (LDL) receptor (LDL-R) gene mutations, is associated with increased risk of premature coronary heart disease. Until now, limited molecular data concerning FH are available in China. The present study described the clinical profiles and cell biological defects of a Chinese FH kindred with novel LDL-R gene mutation.lld:pubmed
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pubmed-article:18701038pubmed:year2008lld:pubmed
pubmed-article:18701038pubmed:articleTitleFunctional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene.lld:pubmed
pubmed-article:18701038pubmed:affiliationBeijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, China.lld:pubmed
pubmed-article:18701038pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:18701038pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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