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

Atıf İçin Kopyala

Türkyılmaz 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)

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
Marmara 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).