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


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

METABOLIC SYNDROME AND RELATED DISORDERS, 2021 (SCI İndekslerine Giren Dergi) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası:
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1089/met.2021.0004
  • Dergi Adı: METABOLIC SYNDROME AND RELATED DISORDERS

Özet

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).