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


Türkyılmaz A., Kurnaz E., Alavanda C., Yarali O., Kartal Baykan E., Yavuz D., ...More

METABOLIC SYNDROME AND RELATED DISORDERS, vol.19, pp.340-346, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19
  • Publication Date: 2021
  • Doi Number: 10.1089/met.2021.0004
  • Journal Name: METABOLIC SYNDROME AND RELATED DISORDERS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.340-346
  • Marmara University Affiliated: Yes

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).