|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).
|
22528129 |
2012 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
|
19318025 |
2009 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
GeneticVariation
|
BEFREE |
The LDLR mutation p.W556R is a frequent and severe defect for FH.
|
20129366 |
2009 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
GeneticVariation
|
BEFREE |
Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.
|
18339137 |
2008 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.
|
18339137 |
2008 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.
|
18339137 |
2008 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
|
17347910 |
2007 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
|
17347910 |
2007 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolaemia in Turkish patients.
|
15823276 |
2005 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
GeneticVariation
|
CLINVAR |
The molecular basis of familial hypercholesterolaemia in Turkish patients.
|
15823276 |
2005 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
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
|
|
0.720 |
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
|
|
0.720 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
GeneticVariation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient.
|
11013454 |
2000 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein.
|
9180246 |
1997 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing.
|
8697568 |
1996 |
|
Hypercholesterolemia, Familial
|
|
0.720 |
CausalMutation
|
CLINVAR |
|
|
|