|| Dominant mutation possibly associated with Familial Hypercholesterolemia
|| common in clinvar
aka c.1222G>A, p.Glu408Lys or E408K
reported in ClinVar as both pathogenic - and - likely benign - for familial hypercholesterolemia and therefore increased risk for coronary artery disease, so, interpret with caution
[PMID 122051] (1-14C) acetate assimilation by obligate methylotrophs, Pseudomonas methanica and Methylosinus trichosporium.
[PMID 3931803] Treatment of homozygous familial hypercholesterolaemia: an informative sibship.
[PMID 17094996] Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
[PMID 17539906] Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
[PMID 18700895] Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
[PMID 19026292] Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.