{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:35:26Z","timestamp":1790231726462,"version":"4.1.0"},"reference-count":22,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1016\/j.jacl.2012.09.004","type":"journal-article","created":{"date-parts":[[2012,9,29]],"date-time":"2012-09-29T06:20:17Z","timestamp":1348899617000},"page":"82-87","source":"Crossref","is-referenced-by-count":23,"title":["A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease"],"prefix":"10.1016","volume":"7","author":[{"given":"Smita I.","family":"Negi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel","family":"Brautbar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salim S.","family":"Virani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aashish","family":"Anand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliana","family":"Polisecki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bela F.","family":"Asztalos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christie M.","family":"Ballantyne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernst J.","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacl.2012.09.004_bib1","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/0002-9343(77)90874-9","article-title":"High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study","volume":"62","author":"Gordon","year":"1977","journal-title":"Am J Med"},{"key":"10.1016\/j.jacl.2012.09.004_bib2","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1007\/s00109-005-0030-4","article-title":"Role of ApoA\u2013I, ABCA1, LCAT, and SR-BI in the biogenesis of HDL","volume":"84","author":"Zannis","year":"2006","journal-title":"J Mol Med"},{"key":"10.1016\/j.jacl.2012.09.004_bib3","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1172\/JCI10727","article-title":"Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes","volume":"106","author":"Clee","year":"2000","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jacl.2012.09.004_bib4","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.bbalip.2009.03.011","article-title":"The cell cholesterol exporter ABCA1 as a protector from cardiovascular disease and diabetes","volume":"1791","author":"Tang","year":"2009","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jacl.2012.09.004_bib5","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1161\/01.ATV.18.4.655","article-title":"Familial HDL deficiency characterized by hypercatabolism of mature apoA-I but not proapoA-I","volume":"18","author":"Batal","year":"1998","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jacl.2012.09.004_bib6","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1146\/annurev.nutr.26.061505.111214","article-title":"Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis","volume":"26","author":"Brunham","year":"2006","journal-title":"Ann Rev Nutr"},{"key":"10.1016\/j.jacl.2012.09.004_bib7","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1126\/science.1099870","article-title":"Multiple rare alleles contribute to low plasma levels of HDL cholesterol","volume":"305","author":"Cohen","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.jacl.2012.09.004_bib8","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1161\/01.ATV.4.4.303","article-title":"Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency","volume":"4","author":"Schaefer","year":"1984","journal-title":"Arteriosclerosis"},{"key":"10.1016\/j.jacl.2012.09.004_bib9","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S0021-9150(00)00643-2","article-title":"Subpopulations of high density lipoproteins in homozygous and heterozygous Tangier disease","volume":"156","author":"Asztalos","year":"2001","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2012.09.004_bib10","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2350-10-1","article-title":"Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease","author":"Rhyne","year":"2009","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jacl.2012.09.004_bib11","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.cca.2010.01.008","article-title":"Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease","volume":"411","author":"Bocchi","year":"2010","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jacl.2012.09.004_bib12","doi-asserted-by":"crossref","first-page":"1524","DOI":"10.1126\/science.289.5484.1524","article-title":"Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers","volume":"289","author":"Repa","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.jacl.2012.09.004_bib13","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1001\/archinte.168.12.1333","article-title":"Coronary artery calcification compared with carotid intima-media thickness in the prediction of cardiovascular disease incidence: the Multi-Ethnic Study of Atherosclerosis (MESA)","volume":"168","author":"Folsom","year":"2008","journal-title":"Arch Intern Med"},{"key":"10.1016\/j.jacl.2012.09.004_bib14","first-page":"148","article-title":"Diagnosis of hereditary neuropathies in adult patients","volume":"250","author":"Pareyson","year":"2003","journal-title":"J\u00a0Neurol"},{"key":"10.1016\/j.jacl.2012.09.004_bib15","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1161\/01.ATV.0000146325.93749.a8","article-title":"High-density lipoprotein subpopulation profile and coronary heart disease prevalence in male participants of the Framingham Offspring Study","volume":"24","author":"Asztalos","year":"2004","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jacl.2012.09.004_bib16","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1172\/JCI104907","article-title":"The inheritance of high density lipoprotein deficiency (Tangier disease)","volume":"43","author":"Fredrickson","year":"1964","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jacl.2012.09.004_bib17","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/0026-0495(81)90027-5","article-title":"Plasma apolipoprotein concentrations in familial apolipoprotein A-I and A-II deficiency (Tangier disease)","volume":"30","author":"Alaupovic","year":"1981","journal-title":"Metabolism"},{"key":"10.1016\/j.jacl.2012.09.004_bib18","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S0021-9150(01)00688-8","article-title":"Cholesterol and apolipoprotein B metabolism in Tangier disease","volume":"159","author":"Schaefer","year":"2001","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2012.09.004_bib19","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1097\/MOL.0b013e32833c1ef6","article-title":"Marked HDL deficiency and premature coronary heart disease","volume":"21","author":"Schaefer","year":"2010","journal-title":"Curr Opin Lipidol"},{"key":"10.1016\/j.jacl.2012.09.004_bib20","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/11905","article-title":"Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency","volume":"22","author":"Brooks-Wilson","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.jacl.2012.09.004_bib21","doi-asserted-by":"crossref","first-page":"41197","DOI":"10.1074\/jbc.M407962200","article-title":"Deficiency of ABCA1 impairs apolipoprotein E metabolism in brain","volume":"279","author":"Hirsch-Reinshagen","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jacl.2012.09.004_bib22","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.jocn.2005.07.009","article-title":"Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy","volume":"13","author":"Cai","year":"2006","journal-title":"J Clin Neurosci"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287412003352?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287412003352?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,20]],"date-time":"2018-11-20T12:24:25Z","timestamp":1542716665000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1933287412003352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["S1933287412003352"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2012.09.004","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1]]}}}