Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico

L Robles-Osorio, A Huerta-Zepeda, ML Ordóñez… - Archives of medical …, 2006 - Elsevier
BACKGROUND: Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-
100 (FDB) are relatively common lipid disorders caused by mutations of the low-density
lipoprotein receptor (LDLR) and apolipoprotein B (apoB) genes, respectively. A third locus
on chromosome 1p34. 1–p32 was recently linked to FH and the responsible gene has been
identified [protein convertase subtilisin/kexin type 9 (PCSK9)]. METHODS: We assessed the
contribution of the LDLR, apoB, and PCSK9 genes as cause of FH in Mexico. Forty six …