|
rs28942084
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Therefore, the coexistence of Pro685Leu and Trp577Term mutations in LDLR is a novel compound heterozygosis in Chinese patients and may lead to a severe FH phenotype.
|
30112042 |
2018 |
|
rs28942084
|
|
|
0.880 |
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 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Recommendations for the management of patients with familial hypercholesterolemia.
|
25404096 |
2015 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
|
24636176 |
2014 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
|
24418289 |
2014 |
|
rs28942084
|
|
|
0.880 |
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 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
|
23725921 |
2013 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
|
22509010 |
2012 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
|
22160468 |
2012 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.
|
22364837 |
2012 |
|
rs28942084
|
|
|
0.880 |
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 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Based on the genetic mutation, the FH subjects were divided into 2 groups, K790X, (n=20) and P664L, (n=5), and their LDLR activities was measured by this method, which was found to be 55.3+/-8.9% and 63.9+/-13.8%, respectively, of that of the control group (n=15).
|
19013141 |
2009 |
|
rs28942084
|
|
|
0.880 |
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 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
|
17142622 |
2006 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.
|
15177124 |
2004 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
BEFREE |
The most common mutations were K790X (19.5%), P664L (6.0%), FH-Tonami-1 (6.0%), IVS15-3C>A (5.5%) and FH-Tonami-2 (4.5%), whereas the other mutations were rare.
|
12417285 |
2002 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
|
11462246 |
2001 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
|
10882754 |
2000 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
|
10422803 |
1999 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
|
10090484 |
1999 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Possible common mutations in the low density lipoprotein receptor gene in Chinese.
|
9452118 |
1998 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
|
9852677 |
1998 |
|
rs28942084
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
1997 |