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Article

Autosomal recessive hypercholesterolemia in a kindred of Syrian ancestry.

Journal of clinical lipidology - 1 Jan 2000

Martinsen Morten Hostrup, Klausen Ib Christian, Tybjaerg-Hansen Anne, Hedegaard Berit Storgaard

Abstract excerpt

Autosomal recessive hypercholesterolemia is a rare genetic disorder due to homozygosity or compound heterozygosity for mutations in the low-density lipoprotein receptor adapter protein 1 gene (LDLRAP1), resulting in elevated low-density lipoprotein cholesterol (LDL-C) levels, large xanthomas, and increased cardiovascular risk. Here, we describe a Danish family of Syrian ancestry carrying a frameshift mutation in...

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Cholesterol, LDL
Genetic Testing
Heterozygote
Homozygote
Hypercholesterolemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hyperlipoproteinemia Type III

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PMID: 32636080
DOI: 10.1016/j.jacl.2020.06.002

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