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Molecular genetics of familial hypercholesterolemia in Israel–revisited
Ronen Durst
*
, Uche Ken Ibe
, Shoshi Shpitzen
, Daniel Schurr
, Osnat Eliav
, Marta Futema
, Ros Whittall
,
Auryan Szalat
, Vardiella Meiner
, Hilla Knobler
, Dov Gavish
, Yaakov Henkin
, Avishay Ellis
, Ardon Rubinstein
, Dror Harats
, Rafael Bitzur
, Bruno Hershkovitz
, Steve E. Humphries
, Eran Leitersdorf
*
Corresponding author for this work
Research output
:
Contribution to journal
›
Article
›
peer-review
20
Scopus citations
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Keyphrases
Homozygous Familial Hypercholesterolemia (HoFH)
100%
Molecular Genetics
100%
LDL Receptor
55%
Low-density Lipoprotein Cholesterol (LDL-C)
44%
SNP
33%
Proprotein Convertase Subtilisin/kexin
33%
Apolipoprotein B Gene
33%
Israel
22%
Israeli Population
22%
Apolipoprotein B (apo B)
22%
Autosomal Dominant Disorder
11%
Molecular Analysis
11%
Compound Heterozygous mutation
11%
Genetic Causes
11%
Early Diagnosis
11%
Mutation Carriers
11%
GC Gene
11%
Phenocopy
11%
CT Severity Score
11%
High-resolution Melting
11%
Direct Sequencing
11%
Early Death
11%
Gene Score
11%
Serum Cholesterol
11%
Mutation Spectrum
11%
Score Calculation
11%
Mutation-negative
11%
Promoter Variants
11%
Current Spectrum
11%
Exon 17
11%
LDLR mutation
11%
TaqMan Genotyping
11%
Polygenic Inheritance
11%
Polygenic Hypercholesterolemia
11%
Serum LDL-C
11%
Biochemistry, Genetics and Molecular Biology
Familial Hypercholesterolemia
100%
Molecular Genetics
100%
LDL Receptor
66%
Apolipoprotein B
55%
Single Nucleotide Polymorphism
33%
Subtilisin
33%
Kexin
33%
Proprotein Convertase
33%
Genetics
11%
Promoter Region
11%
Exon
11%
Genotyping
11%
Autosomal Dominant Inheritance
11%
Hypercholesterolemia
11%
Receptor Gene
11%
Phenocopy
11%
Cholesterol Blood Level
11%
TaqMan
11%
Multifactorial Inheritance
11%