A Family with Complete Deficiency of Plasma Cholesteryl Ester Transfer Protein Activities.

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概要

• 論文の詳細を見る

• A 43-year-old male with a high value of high density lipoprotein cholesterol (151 mg/dl) was found among subjects receiving annual health checks. We investigated the cholesteryl ester transfer protein (CETP) activity and conducted a family study. There was complete deficiency of CETP activities in the proband and his sister, and partial deficiency of CETP activities in his mother and daughter. Genetic analysis revealed a splicing defect (G to A point mutation) in intron 14 of the CETP gene.(Internal Medicine 33: 432-436, 1994)

• 社団法人　日本内科学会の論文

著者

• Akita Harukuni

  The Department Of Internal Medicine Self Defense Force Sapporo Hospital

• TSUCHIHASHI Keiko

  The Department of Chemistry, Sapporo Medical College

• CHIBA Hitoshi

  The Department of Laboratory Medicine, Hokkaido University School of Medicine

• TSUJI Masahiro

  The Department of Internal Medicine, Hokkaido Central Hospital for Social Health Insurance

• FURUYA Yukiko

  The Department of Internal Medicine, Hokkaido Central Hospital for Social Health Insurance

• MAKITA Hironi

  The Department of Internal Medicine, Hokkaido Central Hospital for Social Health Insurance

• AKITA Harukuni

  The Department of Laboratory Medicine, Hokkaido University School of Medicine

関連論文

• PROGNOSTIC SIGNIFICANCE OF LONG VENTRICULAR PAUSES IN ATHLETES
• A Family with Complete Deficiency of Plasma Cholesteryl Ester Transfer Protein Activities.

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