Jun, 1998
Familial hypercholesterolemia with cholesteryl ester transfer protein deficiency
INTERNAL MEDICINE
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- Volume
- 37
- Number
- 6
- First page
- 523
- Last page
- 527
- Language
- English
- Publishing type
- DOI
- 10.2169/internalmedicine.37.523
- Publisher
- 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.
- Link information
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- 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 information
-
- DOI : 10.2169/internalmedicine.37.523
- ISSN : 0918-2918
- CiNii Articles ID : 10007010237
- Pubmed ID : 9678686
- Web of Science ID : WOS:000074704800010