MISC

1994年7月

A FAMILY WITH COMPLETE DEFICIENCY OF PLASMA CHOLESTERYL ESTER TRANSFER PROTEIN ACTIVITIES

INTERNAL MEDICINE
  • H MAKITA
  • ,
  • M TSUJI
  • ,
  • Y FURYA
  • ,
  • K TSUCHIHASHI
  • ,
  • H AKITA
  • ,
  • H CHIBA

33
7
開始ページ
432
終了ページ
436
記述言語
英語
掲載種別
記事・総説・解説・論説等(学術雑誌)
DOI
10.2169/internalmedicine.33.432
出版者・発行元
JAPAN SOC INTERNAL MEDICINE

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.


リンク情報
DOI
https://doi.org/10.2169/internalmedicine.33.432
CiNii Articles
http://ci.nii.ac.jp/naid/130000769650
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/7949644
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:A1994PA74100010&DestApp=WOS_CPL
ID情報
  • DOI : 10.2169/internalmedicine.33.432
  • ISSN : 0918-2918
  • CiNii Articles ID : 130000769650
  • PubMed ID : 7949644
  • Web of Science ID : WOS:A1994PA74100010

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