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., ...Daha Fazla

METABOLIC SYNDROME AND RELATED DISORDERS, cilt.19, ss.340-346, 2021 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1089/met.2021.0004
  • Dergi Adı: METABOLIC SYNDROME AND RELATED DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.340-346
  • Anahtar Kelimeler: low-density lipoprotein receptor, genotype-to-phenotype, familial hypercholesterolemia, novel variants
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Karadeniz Teknik Üniversitesi Adresli: Evet

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).