The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia-Reference-Cited by-同舟云学术

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

Published:2021-08-01 Issue:6 Volume:19 Page:340-346
ISSN:1540-4196
Container-title:Metabolic Syndrome and Related Disorders
language:en
Short-container-title:Metabolic Syndrome and Related Disorders

Author:

Turkyilmaz Ayberk¹,Kurnaz Erdal²,Alavanda Ceren³,Yarali Oguzhan⁴,Kartal Baykan Emine⁵,Yavuz Dilek⁶,Cayir Atilla⁷,Ata Pinar³

Affiliation:

1. Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

2. Department of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Turkey.

3. Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey.

4. Department of Medical Genetics, Erzurum City Hospital, Erzurum, Turkey.

5. Department of Endocrinology, Erzurum City Hospital, Erzurum, Turkey.

6. Department of Endocrinology, Marmara University School of Medicine, Istanbul, Turkey.

7. Department of Pediatric Endocrinology, Erzurum City Hospital, Erzurum, Turkey.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/met.2021.0004

Reference30 articles.

1. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

2. The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype–phenotype correlations

3. Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

4. Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR

5. Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

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3. LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients;Gene;2023-02