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Article

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International journal of molecular sciences - 5 Jun 2018

Benito-Vicente Asier, Uribe Kepa B, Jebari Shifa, Galicia-Garcia Unai, Ostolaza Helena, Martin Cesar

Abstract excerpt

Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by high blood-cholesterol levels mostly caused by mutations in the low-density lipoprotein receptor (LDLr). With a prevalence as high as 1/200 in some populations, genetic screening for pathogenic LDLr mutations is a cost-effective approach in families classified as 'definite' or 'probable' FH and can help to early diagnosis....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29874871
DOI: 10.3390/ijms19061676
PMCID: PMC6032215

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