|| Dominant mutation associated with Familial Hypercholesterolemia
|| common in complete genomics
aka c.2000G>A, p.Cys667Tyr or C667Y; also known as FH French Canadian 2
reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
[PMID 11668627] Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
[PMID 12406975] Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.
[PMID 15241806] Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
[PMID 17426749] Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia.
[PMID 19318025] Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.