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Article

Molecular genetics of familial hypercholesterolemia in Israel-revisited.

Atherosclerosis - 1 Feb 2017

Durst Ronen, Ibe Uche Ken, Shpitzen Shoshi, Schurr Daniel, Eliav Osnat, Futema Marta, Whittall Ros, Szalat Auryan, Meiner Vardiella, Knobler Hilla, Gavish Dov, Henkin Yaakov, Ellis Avishay, Rubinstein Ardon, Harats Dror, Bitzur Rafael, Hershkovitz Bruno, Humphries Steve E, Leitersdorf Eran

Abstract excerpt

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes for LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type9 (PCSK9). The purpose of the current investigation was to define the current spectrum of mutations causing FH in Israel. METHODS: New families were collected through the MEDPED (Make Early...

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Share to Apolipoprotein B-100
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28104544
DOI: 10.1016/j.atherosclerosis.2016.12.021

Genes

LDLR
APOB
PCSK9

Variants

Provenance

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