Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
BEFREE |
Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.
|
18339137 |
2008 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
BEFREE |
The LDLR mutation p.W556R is a frequent and severe defect for FH.
|
20129366 |
2009 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
CLINVAR |
|
|
|
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
CLINVAR |
|
|
|
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
|
7550239 |
1995 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
|
25053660 |
2014 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
|
7635482 |
1995 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
|
17142622 |
2006 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
|
9852677 |
1998 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
|
10882754 |
2000 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
|
22509010 |
2012 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
|
10090484 |
1999 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
|
22160468 |
2012 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
|
1464748 |
1992 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
|
11462246 |
2001 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
|
8462973 |
1993 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Recommendations for the management of patients with familial hypercholesterolemia.
|
25404096 |
2015 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
|
17347910 |
2007 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.
|
15177124 |
2004 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
|
2726768 |
1989 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
Hyperlipoproteinemia Type IIa
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
|
1446662 |
1992 |