|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
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 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Recommendations for the management of patients with familial hypercholesterolemia.
|
25404096 |
2015 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
|
24636176 |
2014 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
|
24418289 |
2014 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
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 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
|
23725921 |
2013 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.
|
22364837 |
2012 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
|
22160468 |
2012 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
|
22509010 |
2012 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
BEFREE |
Ninety-seven FH patients (all p.W66G for the LDLR gene mutation and not under lipid-lowering treatment) were recruited and finely phenotyped for DNA methylation analyses at ABCA1 gene locus.
|
22419126 |
2012 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
|
21600525 |
2011 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
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 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
|
17142622 |
2006 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.
|
15177124 |
2004 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
|
11462246 |
2001 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
|
10882754 |
2000 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
BEFREE |
DNA samples from 25 hypercholesterolemic patients with clinical features of FH and 25 normal controls were analyzed for four known point mutations: W66G (exon 3), E207K (exon 4), E387K (exon 9), and P664L (exon 14), which are those most reported among Indian immigrants in South Africa.
|
11138612 |
2000 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
BEFREE |
We have then genotyped five markers (D19S413, D19S865, D19S221, D19S914, D19S586) in 102 heterozygotes (38 del > 15kb; 36 W66G; 16 C646Y; 12 E207K), two compound heterozygotes (del > 15kb/W66G; del > 15kb/C646Y) and seven homozygotes (three del > 15 kb; three W66G: one E207K) with FH unrelated to the first and second degree.
|
10208489 |
1999 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
|
10090484 |
1999 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
|
10422803 |
1999 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Possible common mutations in the low density lipoprotein receptor gene in Chinese.
|
9452118 |
1998 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
|
9852677 |
1998 |
|
rs121908025
|
|
Hyperlipoproteinemia Type IIa
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |