{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:17:21Z","timestamp":1790857041875,"version":"4.1.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1998,9,1]],"date-time":"1998-09-01T00:00:00Z","timestamp":904608000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[1998,9,1]],"date-time":"1998-09-01T00:00:00Z","timestamp":904608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1998,9]]},"DOI":"10.1038\/1770","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T08:34:58Z","timestamp":1027672498000},"page":"96-98","source":"Crossref","is-referenced-by-count":69,"title":["Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy"],"prefix":"10.1038","volume":"20","author":[{"given":"Stephan","family":"Rust","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Funke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"von Eckardstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Cullen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hester Y.","family":"Kroes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roel","family":"Hordijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Geisel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Kastelein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri O.F.","family":"Molhuizen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Schreiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Mischke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry W.","family":"Hahmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerd","family":"Assmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0998_96_CR1","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1016\/S0140-6736(77)92274-7","volume":"1","author":"NE Miller","year":"1977","unstructured":"Miller, N.E., Thelle, D.S., Forde, O.H. & Mjos, O.D. The Troms\u00f6 heart-study. High-density lipoprotein and coronary heart-disease: a prospective case-control study. Lancet 1, 965\u2013968 (1977).","journal-title":"Lancet"},{"key":"BFng0998_96_CR2","doi-asserted-by":"publisher","first-page":"1128","DOI":"10.1001\/archinte.1981.00340090024008","volume":"141","author":"T Gordon","year":"1981","unstructured":"Gordon, T., Kannel, W.B., Castelli, W.P. & Dawber, T.R. Lipoproteins, cardiovascular disease, and death. The Framingham study. Arch. Intern. Med. 141, 1128\u20131131 (1981).","journal-title":"Arch. Intern. Med."},{"key":"BFng0998_96_CR3","volume-title":"PROCAM-trial.","author":"G Assmann","year":"1986","unstructured":"Assmann, G. & Schulte, H. PROCAM-trial. (Panscientia Verlag, Hedingen, Z\u00fcrich, 1986)."},{"key":"BFng0998_96_CR4","doi-asserted-by":"publisher","first-page":"1016","DOI":"10.7326\/0003-4819-55-6-1016","volume":"55","author":"DS Fredrickson","year":"1961","unstructured":"Fredrickson, D.S., Altrocchi, P.H., Avioli, L.V., Goodman, D.S. & Goodman, H.C. Tangier disease: Combined clinical staff conference at the National Institute of Health. Ann. Intern. Med. 55, 1016\u20131031 (1961).","journal-title":"Ann. Intern. Med."},{"key":"BFng0998_96_CR5","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/0021-9150(94)90144-9","volume":"107","author":"C Serfaty-Lacrosniere","year":"1994","unstructured":"Serfaty-Lacrosniere, C. et al. Homozygous Tangier disease and cardiovascular disease. Atherosclerosis 107, 85\u201398 (1994).","journal-title":"Atherosclerosis"},{"key":"BFng0998_96_CR6","first-page":"2053","volume-title":"The Metabolic and Molecular Basis of Inheritied Disease","author":"G Assmann","year":"1995","unstructured":"Assmann, G., von-Eckardstein, A. & Brewer, H.B. Jr. Familial high density lipoprotein deficiency: Tangier Disease. in The Metabolic and Molecular Basis of Inheritied Disease. (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 2053\u20132072 (McGraw-Hill, New York, 1995)."},{"key":"BFng0998_96_CR7","doi-asserted-by":"publisher","first-page":"7198","DOI":"10.1073\/pnas.84.20.7198","volume":"84","author":"SK Karathanasis","year":"1987","unstructured":"Karathanasis, S.K., Ferris, E. & Haddad, I.A. DNA inversion within the apolipoproteins AI\/CIII\/AIV-encoding gene cluster of certain patients with premature atherosclerosis. Proc. Natl Acad. Sci. USA 84, 7198\u20137202 (1987).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng0998_96_CR8","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1172\/JCI114997","volume":"87","author":"H Funke","year":"1991","unstructured":"Funke, H. et al. A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. J. Clin. Invest. 87, 371\u2013376 (1991).","journal-title":"J. Clin. Invest."},{"key":"BFng0998_96_CR9","doi-asserted-by":"publisher","first-page":"4855","DOI":"10.1073\/pnas.88.11.4855","volume":"88","author":"H Funke","year":"1991","unstructured":"Funke, H. et al. A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity. Proc. Natl Acad. Sci. USA 88, 4855\u20134859 (1991).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng0998_96_CR10","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1172\/JCI116248","volume":"91","author":"H Funke","year":"1993","unstructured":"Funke, H. et al. Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. J. Clin. Invest. 91, 677\u2013683 (1993).","journal-title":"J. Clin. Invest."},{"key":"BFng0998_96_CR11","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1006\/bbrc.1994.2742","volume":"205","author":"M Walter","year":"1994","unstructured":"Walter, M., Gerdes, U., Seedorf, U. & Assmann, G. The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects. Biochem. Biophys. Res. Commun. 205, 850\u2013856 (1994).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFng0998_96_CR12","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1172\/JCI118082","volume":"96","author":"GA Francis","year":"1995","unstructured":"Francis, G.A., Knopp, R.H. & Oram, J.F. Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease. J. Clin. Invest. 96, 78\u201387 (1995).","journal-title":"J. Clin. Invest."},{"key":"BFng0998_96_CR13","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1161\/01.ATV.15.5.683","volume":"15","author":"G Rogler","year":"1995","unstructured":"Rogler, G., Trumbach, B., Klima, B., Lackner, K.J. & Schmitz, G. HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients. Arterioscler. Thromb. Vasc. Biol. 15, 683\u2013690 (1995).","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"BFng0998_96_CR14","doi-asserted-by":"publisher","first-page":"2315","DOI":"10.1172\/JCI119043","volume":"98","author":"M Walter","year":"1996","unstructured":"Walter, M. et al. Defective regulation of phosphatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms. J. Clin. Invest. 98, 2315\u20132323 (1996).","journal-title":"J. Clin. Invest."},{"key":"BFng0998_96_CR15","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1172\/JCI108853","volume":"60","author":"G Assmann","year":"1977","unstructured":"Assmann, G., Simantke, O., Schaefer, H.-E. & Smootz, E. Characterization of high density lipoproteins in patients heterozygous for Tangier disease. J. Clin. Invest. 60, 1025\u20131035 (1977).","journal-title":"J. Clin. Invest."},{"key":"BFng0998_96_CR16","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1093\/hmg\/3.8.1217","volume":"3","author":"EG Puffenberger","year":"1994","unstructured":"Puffenberger, E.G. et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum. Mol. Genet. 3, 1217\u20131225 (1994).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0998_96_CR17","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1038\/ng1294-380","volume":"8","author":"RHJ Houwen","year":"1994","unstructured":"Houwen, R.H.J. et al. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nature Genet. 8, 380\u2013386 (1994).","journal-title":"Nature Genet."},{"key":"BFng0998_96_CR18","first-page":"1088","volume":"56","author":"K Nikali","year":"1995","unstructured":"Nikali, K. et al. Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am. J. Hum. Genet. 56, 1088\u20131095 (1995).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0998_96_CR19","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1038\/ng1195-241","volume":"11","author":"E Lander","year":"1995","unstructured":"Lander, E. & Kruglyak, L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genet. 11, 241\u2013247 (1995).","journal-title":"Nature Genet."},{"key":"BFng0998_96_CR20","first-page":"1058","volume":"48","author":"N Risch","year":"1995","unstructured":"Risch, N. A note on multiple testing procedures in linkage analysis. Am. J. Hum. Genet. 48, 1058\u20131064 (1995).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0998_96_CR21","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1136\/jmg.31.2.156","volume":"31","author":"HY Kroes","year":"1994","unstructured":"Kroes, H.Y., Tuerlings, J.H.A.M., Hordijk, R., Folkers, N.R.P. & ten Kate, L.P. Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32). J. Med. Genet. 31, 156\u2013158 (1994).","journal-title":"J. Med. Genet."},{"key":"BFng0998_96_CR22","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/380152a0","volume":"380","author":"C Dib","year":"1996","unstructured":"Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152\u2013154 (1996).","journal-title":"Nature"},{"key":"BFng0998_96_CR23","doi-asserted-by":"publisher","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","volume":"81","author":"GM Lathrop","year":"1984","unstructured":"Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl Acad. Sci. USA 81, 3443\u20133446 (1984).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng0998_96_CR24","first-page":"252","volume":"53","author":"RW Cottingham Jr.","year":"1993","unstructured":"Cottingham, R.W., Jr., Idury, R.M. & Schaffer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53, 252\u2013263 (1993).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0998_96_CR25","doi-asserted-by":"publisher","first-page":"2037","DOI":"10.1126\/science.8091226","volume":"265","author":"ES Lander","year":"1994","unstructured":"Lander, E.S. & Schork, N.J. Genetic dissection of complex traits. Science 265, 2037\u20132048 (1994).","journal-title":"Science"}],"updated-by":[{"DOI":"10.1038\/3134","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[1998,11,1]],"date-time":"1998-11-01T00:00:00Z","timestamp":909878400000}}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0998_96.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0998_96","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0998_96.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T19:36:32Z","timestamp":1638387392000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0998_96"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,9]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1998,9]]}},"alternative-id":["BFng0998_96"],"URL":"https:\/\/doi.org\/10.1038\/1770","relation":{"erratum":[{"id-type":"doi","id":"10.1038\/3134","asserted-by":"object"}]},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,9]]}}}