Article

Analysis of Low-Density Lipoprotein Receptor Gene Mutations in A Family with Familial Hypercholesterolemia

2022-02-17

Abstract excerpt

<h4>Background: </h4> Familial hypercholesterolemia (FH) is a common monogenic autosomal dominant hereditary disease, mainly caused by pathogenic mutations in the low-density lipoprotein receptor ( LDLR ) gene. It is characterized by severely elevated LDL cholesterol (LDL-C) levels, cutaneous xanthomatosis, and premature coronary heart disease. <h4>Materials: </h4> and Methods: Whole exome sequencing of the proban...

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Literature Corpus work: 7f388ff5-f884-5255-8df7-1047eb628743
DOI: 10.21203/rs.3.rs-1353487/v1

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