|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
|
25461735 |
2015 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation.
|
21145767 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
|
19319977 |
2009 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
|
19318025 |
2009 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Mutations in low-density lipoprotein receptor gene as a cause of hypercholesterolemia in Taiwan.
|
16092059 |
2005 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.
|
12406975 |
2002 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
|
11668627 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia.
|
1453433 |
1992 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
"Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the ""Lebanese"" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor."
|
1959928 |
1991 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.
|
3025214 |
1987 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA.
|
14209286 |
1964 |
|
Hyperlipoproteinemia Type IIa
|
|
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hyperlipoproteinemia Type IIa
|
|
0.720 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
|
28502510 |
2018 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
|
28391882 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.
|
27247956 |
2016 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
|
25461735 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
|
23680767 |
2013 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation.
|
21145767 |
2011 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
|
19319977 |
2009 |