The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia


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TÜRKYILMAZ A. , Kurnaz E., ALAVANDA C., Yarali O., Kartal Baykan E., YAVUZ D., ...More

METABOLIC SYNDROME AND RELATED DISORDERS, 2021 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume:
  • Publication Date: 2021
  • Doi Number: 10.1089/met.2021.0004
  • Title of Journal : METABOLIC SYNDROME AND RELATED DISORDERS

Abstract

Background: Monogenic hypercholesterolemia with Mendelian inheritance is a heterogeneous group of diseases that are characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C) levels, and the most common form of this disorder is autosomal-dominant familial hypercholesterolemia (FH).