Putative Pathogenic Variants of and of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia.

Journal: Journal of lipid and atherosclerosis
Published Date: Oct 4, 2023

Abstract

OBJECTIVE: Sitosterolemia is a rare autosomal recessive disease caused by the deleterious variants of adenosine 5'-triphosphate (ATP)-binding cassette sub-family G member 5 () or ATP-binding cassette sub-family G member 8 (). There are only few data on the pathogenicity of and . This study aimed to propose a scheme for determining variant pathogenicity and to catalog the putative pathogenic variants in sitosterolemia.

Authors

  • Nobuko Kojima
    Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
  • Hayato Tada
    Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
  • Akihiro Nomura
    Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
  • Soichiro Usui
    Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
  • Kenji Sakata
    Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
  • Kenshi Hayashi
    Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
  • Atsushi Nohara
    Department of Genetics, Ishikawa Prefectural Central Hospital, Kanazawa, Japan.
  • Akihiro Inazu
    Department of Laboratory Science, Molecular Biochemistry and Molecular Biology, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
  • Masa-Aki Kawashiri
    Department of Internal Medicine, Kaga Medical Center, Kaga, Japan.
  • Masayuki Takamura
    Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.

Keywords

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