Denk, G. U. and Aslanidis, C. and Schmitz, G. and Parhofer, K. G. and Pusl, T. (2011) Association of HDL Deficiency with a Novel Mutation in the ABCA1 Gene. EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 119 (1). pp. 53-55. ISSN 0947-7349, 1439-3646
Full text not available from this repository. (Request a copy)Abstract
The ATP-binding cassette transporter A1 (ABCA1) is a membrane-bound protein that is abundant in macrophages and is essential for the first step of reverse cholesterol transport and maintenance of homeostasis of high-density lipoprotein (HDL)-bound cholesterol. Low serum HDL levels are associated with increased risk for cardiovascular disease. Homozygous and heterozygous mutations in the ABCA1 gene may be associated with increased atherosclerosis. Here we report about two heterozygous mutations c.5398A>C and c.2369G>A in the ABCA1 gene associated with HDL cholesterol deficiency in serum.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HIGH-DENSITY-LIPOPROTEIN; ISCHEMIC-HEART-DISEASE; CHOLESTEROL LEVELS; CARDIOVASCULAR-DISEASE; LIPID-LEVELS; POPULATION; PLASMA; RISK; ATHEROSCLEROSIS; LIPASE; low HDL; hypoalphalipoproteinaemia; Tangier disease |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 29 Jun 2020 12:12 |
| Last Modified: | 29 Jun 2020 12:12 |
| URI: | https://pred.uni-regensburg.de/id/eprint/21580 |
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