present in Gene: APOE
present in Chromosome: 19
Position on Chromosome: 44908756
Alleles of this Variant: C/A;T
rs121918393 in
APOE gene and
Hyperlipoproteinemia Type III
PMID 1674745 1991 Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
PMID 2101409 1991 Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi).
PMID 8287539 1994 Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA.
PMID 1361196 1992 Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.
PMID 7635945 1995 Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu).
PMID 2556398 1989 Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127.
PMID 22481068 2012 APOE R136S and p.Leu149del induce autosomal dominant FD and a phenotype indistinguishable from FCHL, respectively.
PMID 2738044 1989 Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245).