The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia
| Autor: | Emine Kartal Baykan, Ceren Alavanda, Erdal Kurnaz, Pinar Ata, Oguzhan Yarali, Ayberk Turkyilmaz, Atilla Cayir, Dilek Gogas Yavuz |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
medicine.medical_specialty Turkey Endocrinology Diabetes and Metabolism Familial hypercholesterolemia Cohort Studies Hyperlipoproteinemia Type II symbols.namesake Internal medicine Internal Medicine Humans Medicine Child Lipoprotein cholesterol Heterogeneous group business.industry medicine.disease Endocrinology Receptors LDL Mutation Cohort LDL receptor Mendelian inheritance symbols lipids (amino acids peptides and proteins) Genotype to phenotype business |
| Zdroj: | Metabolic Syndrome and Related Disorders. 19:340-346 |
| ISSN: | 1557-8518 1540-4196 |
| Popis: | Background: Monogenic hypercholesterolemia with Mendelian inheritance is a heterogeneous group of diseases that are characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C) leve... |
| Databáze: | OpenAIRE |
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