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

Türkyılmaz, Ayberk; Kurnaz, Erdal; Alavanda, CEREN; Yarali, Oguzhan; Kartal Baykan, Emine; Yavuz, DİLEK; Cayir, Atilla; Ata, PINAR

doi:10.1089/met.2021.0004

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

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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)

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
Keywords: low-density lipoprotein receptor, genotype-to-phenotype, familial hypercholesterolemia, novel variants
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).