|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
|
22095935 |
2012 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.
|
21475731 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
|
20809525 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.
|
19026292 |
2008 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
|
16542394 |
2006 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
|
16542394 |
2006 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
|
16542394 |
2006 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.
|
16159606 |
2005 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.
|
16159606 |
2005 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
|
14974088 |
2004 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
|
11462246 |
2001 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
|
11462246 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
|
11462246 |
2001 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.
|
7616128 |
1995 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.
|
7616128 |
1995 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.
|
7616128 |
1995 |
|
Low density lipoprotein increased
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia result
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hyperlipoproteinemia Type IIa
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|