rs5742904
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
rs5742904
|
|
T |
0.700 |
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
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.
|
21059979 |
2010 |
rs5742904
|
|
T |
0.700 |
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 |
0.700 |
CausalMutation |
CLINVAR |
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.
|
18325181 |
2008 |
rs5742904
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor.
|
15797858 |
2005 |
rs5742904
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.
|
11115503 |
2001 |
rs5742904
|
|
T |
0.700 |
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
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK.
|
9105560 |
1997 |
rs5742904
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.
|
7627691 |
1995 |
rs5742904
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
|
2563166 |
1989 |