%0 Journal Article %1 citeulike:481521 %A Innerarity, T. L. %A Mahley, R. W. %A Weisgraber, K. H. %A Bersot, T. P. %A Krauss, R. M. %A Vega, G. L. %A Grundy, S. M. %A Friedl, W. %A Davignon, J. %A Mccarthy, B. J. %C Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140-0608. %D 1990 %J Journal of Lipid Research %K mapping epitope apob %N 8 %P 1337--1349 %T Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. %U http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=2280177 %V 31 %X 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.

@article{citeulike:481521, abstract = {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.}, added-at = {2006-07-07T01:10:50.000+0200}, address = {Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140-0608.}, author = {Innerarity, T. L. and Mahley, R. W. and Weisgraber, K. H. and Bersot, T. P. and Krauss, R. M. and Vega, G. L. and Grundy, S. M. and Friedl, W. and Davignon, J. and Mccarthy, B. J.}, biburl = {https://www.bibsonomy.org/bibtex/27f8e31cfc7edaa60cf7bfd8177988b2d/biblio24}, citeulike-article-id = {481521}, interhash = {6f1f1db293a28c996c9b93320dc91259}, intrahash = {7f8e31cfc7edaa60cf7bfd8177988b2d}, issn = {0022-2275}, journal = {Journal of Lipid Research}, keywords = {mapping epitope apob}, month = {August}, number = 8, pages = {1337--1349}, priority = {2}, timestamp = {2006-07-07T01:10:50.000+0200}, title = {Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.}, url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve\&db=pubmed\&dopt=Abstract\&list_uids=2280177}, volume = 31, year = 1990 }