| Autor: |
TL Innerarity, RW Mahley, KH Weisgraber, TP Bersot, RM Krauss, GL Vega, SM Grundy, W Friedl, J Davignon, BJ McCarthy |
| Jazyk: |
angličtina |
| Rok vydání: |
1990 |
| Předmět: |
|
| Zdroj: |
Journal of Lipid Research, Vol 31, Iss 8, Pp 1337-1349 (1990) |
| Druh dokumentu: |
article |
| ISSN: |
0022-2275 |
| DOI: |
10.1016/S0022-2275(20)42605-7 |
| Popis: |
Familial defective apolipoprotein B-100 is a genetic disorder of apolipoprotein B-100 that causes moderate to severe hypercholesterolemia. A single amino acid mutation in apolipoprotein B diminishes the ability of low density lipoproteins to bind to the low density lipoprotein receptor. Low density lipoproteins accumulate in the plasma because their efficient receptor-mediated catabolism is disrupted. This mutation has been identified in the United States, Canada, and Europe and is estimated to occur at a frequency of approximately 1/500 in these populations. Thus, it appears that this newly described disorder may be a significant genetic cause of hypercholesterolemia in Western societies. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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