Jul, 1994
A FAMILY WITH COMPLETE DEFICIENCY OF PLASMA CHOLESTERYL ESTER TRANSFER PROTEIN ACTIVITIES
INTERNAL MEDICINE
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- Volume
- 33
- Number
- 7
- First page
- 432
- Last page
- 436
- Language
- English
- Publishing type
- Article, review, commentary, editorial, etc. (scientific journal)
- DOI
- 10.2169/internalmedicine.33.432
- Publisher
- 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.
- Link information
-
- 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 information
-
- DOI : 10.2169/internalmedicine.33.432
- ISSN : 0918-2918
- CiNii Articles ID : 130000769650
- Pubmed ID : 7949644
- Web of Science ID : WOS:A1994PA74100010