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Article

Cascade genetic screening for familial hypercholesterolemia

1 Nov 2004

Abstract excerpt

Familial hypercholesterolemia (FH) is caused by a mutation in the low-density lipoprotein receptor gene and is characterized by hypercholesterolemia, xanthomas, and premature coronary heart disease. Heterozygotes typically have values for total serum cholesterol in the range of 7-15 mmol/l and efficient lipid-lowering drug therapy is available. However, only approximately 20% of patients are diagnosed and less...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15521974
DOI: 10.1111/j.1399-0004.2004.00320.x

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