MISC

1998年6月

Familial hypercholesterolemia with cholesteryl ester transfer protein deficiency

INTERNAL MEDICINE
  • M Kamigaki
  • ,
  • M Tsuji
  • ,
  • J Ishii
  • ,
  • A Hata
  • ,
  • H Chiba
  • ,
  • H Akita
  • ,
  • T Hirayama
  • ,
  • M Emi

37
6
開始ページ
523
終了ページ
527
記述言語
英語
掲載種別
DOI
10.2169/internalmedicine.37.523
出版者・発行元
JAPAN SOC INTERNAL MEDICINE

A 21-year-old male was clinically diagnosed with familial hypercholesterolemia (FH) by the manifestations of hypercholesterolemia, tendon xanthoma and family history of premature coronary heart disease. Low density lipoprotein receptor gene was analyzed in attempt to determine a possible point mutation. The normal sequence was partially preserved, and the patient was genetically diagnosed as a heterozygote of FH, In addition, screening for two cholesteryl ester transfer protein (CETP) gene mutations common to Japanese revealed the patient to be a heterozygote of CETP deficiency. A complication of two influential mutations for atherosclerotic ailments was genetically ascertained.

Web of Science ® 被引用回数 : 1

リンク情報
DOI
https://doi.org/10.2169/internalmedicine.37.523
CiNii Articles
http://ci.nii.ac.jp/naid/10007010237
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/9678686
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000074704800010&DestApp=WOS_CPL
ID情報
  • DOI : 10.2169/internalmedicine.37.523
  • ISSN : 0918-2918
  • CiNii Articles ID : 10007010237
  • PubMed ID : 9678686
  • Web of Science ID : WOS:000074704800010

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