Genetics and Genomics
Mutations affecting lipoprotein phenotype in South European FH patients identified
Published in Health and Medicine Week, January 5th, 2004
According to recent research from Spain, "Few data are available on genotype-phenotype interactions among familial hypercholesterolemia (FH) patients in South European populations and there are no data about the influence of the R3500Q mutation on lipoprotein phenotype compared to low-density lipoprotein receptor (LDLR) mutations."
To rectify this, J.T. Real and coauthors at the University of Valencia conducted a study "to analyze the influence of mutations in the LDLR and apolipoprotein B (apoB) genes on lipoprotein phenotype among subjects...
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