The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease

Journal of Molecular Medicine

Volumn 84, Issue 8, 2006, Pages 647-650

  Rhyne, Jeffrey ^a   Ryan, Michael J ^a   White, Charles ^a   Chimonas, Theodore ^a   Miller, Michael ^a,b  

^a BALTIMORE VA MEDICAL CENTER   (United States)

^b UNIVERSITY OF MARYLAND MEDICAL CENTER   (United States)

Author keywords

CETP deficiency; Multidetector CT scan; Mutations

Indexed keywords

CHOLESTEROL ESTER TRANSFER PROTEIN; GLUTAMINE 165X; GLUTAMINE 87X; GLUTAMINE DERIVATIVE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; COMPUTER ASSISTED TOMOGRAPHY; CORONARY ARTERY DISEASE; DISEASE ASSOCIATION; ENZYME ACTIVITY; GENE MUTATION; GREECE; HUMAN; HYPERALPHALIPOPROTEINEMIA; LABORATORY TEST; MALE; METABOLIC DISORDER; PEDIGREE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; APOLIPOPROTEIN A-I; CHOLESTEROL ESTER TRANSFER PROTEINS; CORONARY ARTERIOSCLEROSIS; CORONARY ARTERY DISEASE; CORONARY VESSELS; FEMALE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIAS; LIPOPROTEINS, HDL; LIPOPROTEINS, LDL; MALE; MIDDLE AGED; MUTATION; MYOCARDIUM; PEDIGREE; TOMOGRAPHY, X-RAY COMPUTED; TRIGLYCERIDES;

EID: 33746692493     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-006-0070-4     Document Type: Article

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