FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.

Abstract

BACKGROUND Familial hypercholesterolaemia (FH) is caused by mutations in the low-density lipoprotein receptor gene and the gene encoding apolipoprotein B-100, affecting one in 500 individuals. METHODS One hundred and eighty-three Greek FH patients were screened for mutations on the LDLR and ApoB genes. RESULTS We identified mutations in 67 probands and… (More)

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Cite this paper

@article{Dedoussis2004FHCP, title={FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.}, author={George V. Z. Dedoussis and John Skoumas and Christos Pitsavos and Despoina M Choumerianou and Jochen Genschel and Harald H H W Schmidt and Christodoulos Stefanadis}, journal={European journal of clinical investigation}, year={2004}, volume={34 6}, pages={402-9} }