|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
PCSK9 inhibitor therapy in homozygous familial defective apolipoprotein B-100 due to APOB R3500Q: A case report.
|
28988723 |
2018 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the R3500Q variant in APOB most commonly associated with FDB; in addition, the APOB R3500 W variant is known to make a significant contribution to familial hypercholesterolemia (FH) among East Asians.
|
27919345 |
2017 |
|
rs5742904
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
rs5742904
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
|
21868016 |
2011 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
|
21382890 |
2011 |
|
rs5742904
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Additional genotyping revealed the presence of R3500Q, the mutation responsible for familial defective apolipoprotein B-100, which was also strongly associated with LDL-C in the replication sample (P < 10(-36)).
|
21059979 |
2010 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Additional genotyping revealed the presence of R3500Q, the mutation responsible for familial defective apolipoprotein B-100, which was also strongly associated with LDL-C in the replication sample (P < 10(-36)).
|
21059979 |
2010 |
|
rs5742904
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC).
|
18222178 |
2008 |
|
rs5742904
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.
|
18325181 |
2008 |
|
rs5742904
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor.
|
15797858 |
2005 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The prevalence of FDB Arg3500Gln mutation in hypercholesterolaemic Polish subjects (3.7%) seems to be similar to the frequency reported in other Caucasian hypercholesterolaemic populations.
|
11781700 |
2001 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
By screening two groups of probands, clinically diagnosed as having Familial Hypercholesterolemia (700 from mainland Italy and 305 from Sicily), the prevalence of familial defective apolipoprotein B-100 due to Arg3500Gln was found to be very low (0.28% and 0.65%, respectively).
|
11833852 |
2001 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In our FH probands, four cases of FDB (R3500Q mutation) were diagnosed with allele-specific PCR, and the mutation was also detectable in five cases out of seven living family members.
|
11137107 |
2001 |
|
rs5742904
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.
|
11115503 |
2001 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Familial defective apolipoprotein B-100: detection and haplotype analysis of the Arg(3500)-->Gln mutation in hyperlipidemic Chinese.
|
10998466 |
2000 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Familial defective apolipoprotein B-100 (FDB) is a genetic disorder caused by a substitution of glutamine for arginine at residue 3500 of the apolipoprotein B-100 molecule.
|
10984082 |
2000 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
One individual with familial defective apolipoprotein B-100 (Arg3500Gln) was found in each group.
|
11055796 |
2000 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Eight (5.1%) unrelated individuals were found to be heterozygous for the FDB R3500Q mutation, including two (3.7%) of those 54 classified clinically as having FH.
|
10795369 |
1999 |
|
rs5742904
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL.
|
10388479 |
1999 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The Arg3500Gln mutation in the apolipoprotein B gene, which is responsible for familial defective apolipoprotein B-100 and is present in approximately 1 in 1000 persons in Denmark, causes severe hypercholesterolemia and increases the risk of ischemic heart disease.
|
9603795 |
1998 |
|
rs5742904
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK.
|
9105560 |
1997 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.
|
9259199 |
1997 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Two specific mutations in the APOB gene--R3500Q and R3531C--induce FDB.
|
9259199 |
1997 |
|
rs5742904
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.
|
7627691 |
1995 |
|
rs5742904
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.
|
7883971 |
1995 |