|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
"Accumulation of ""small dense"" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor."
|
8254047 |
1993 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygous familial hypercholesterolemia (hoFH) is either diagnosed on the identification of pathogenic genetic variants in LDLR, APOB, or PCSK9 or by phenotypic parameters of which an extremely elevated LDL-C level >13 mmol/L (>500 mg/dL) is the most prominent hallmark.
|
30795984 |
2020 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Apolipoprotein B metabolism in homozygous familial hypercholesterolemia.
|
2715722 |
1989 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
A microsomal triglyceride transfer protein inhibitor and an antisense oligonucleotide against APOB have recently been approved for use in subjects with clinically diagnosed homozygous familial hypercholesterolemia.
|
24632267 |
2014 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A total of 97 subjects were identified as having HoFH-of whom, 47 were true homozygous (1 for APOB, 5 for LDLRAP1, and 41 for LDLR), 45 compound heterozygous for LDLR, 3 double heterozygous for LDLR and PSCK9, and 2 double heterozygous for LDLR and APOB.
|
27784735 |
2016 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder.
|
8371062 |
1993 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
|
22408029 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
An oral fat load was given, and chylomicron plasma kinetics was determined by monitoring the clearance of triglyceride, retinyl palmitate and apolipoprotein B48, calculated as the area under the curve, for 7.5 h. In addition, the binding and uptake of chylomicron remnants by fibroblasts of FH and control subjects were assessed in vitro.
|
9650011 |
1998 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Array-based resequencing for mutations causing familial hypercholesterolemia.
|
21376320 |
2011 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
|
2563166 |
1989 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.
|
24507774 |
2014 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.
|
22353362 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
|
11238294 |
2001 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia.
|
9626156 |
1998 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype.
|
9191540 |
1997 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100.
|
9339363 |
1997 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.
|
11781700 |
2001 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.
|
1466657 |
1992 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient.
|
1360085 |
1992 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
|
25461735 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.
|
21657943 |
2011 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.
|
18096825 |
2008 |