Article

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene

2021-11-04

Abstract excerpt

<h4>Background: </h4> Autosomal recessive hypercholesterolemia (ARH) is a rare monogenic disorder resulting from mutations of the LDLRAP1 gene, which leads to elevated LDL-C levels. Here, using whole exome sequencing (WES), we describe a 22-year-old Iranian female who carries a novel nonsense mutation in LDLRAP1. <h4>Methods: </h4> Genetic investigations were performed for the patient and her family. She showed LD...

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Literature Corpus work: 2e6ab694-5a61-53fd-b428-d5d02d5c9c21
DOI: 10.21203/rs.3.rs-380832/v2

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