{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:33:40Z","timestamp":1791419620172,"version":"4.3.3"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"6311","license":[{"start":{"date-parts":[[1991,2,21]],"date-time":"1991-02-21T00:00:00Z","timestamp":667094400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[1991,2,21]],"date-time":"1991-02-21T00:00:00Z","timestamp":667094400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nature"],"published-print":{"date-parts":[[1991,2,21]]},"DOI":"10.1038\/349704a0","type":"journal-article","created":{"date-parts":[[2003,6,12]],"date-time":"2003-06-12T19:03:39Z","timestamp":1055444619000},"page":"704-706","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3710,"title":["Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease"],"prefix":"10.1038","volume":"349","author":[{"given":"Alison","family":"Goate","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Chartier-Harlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Mullan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Crawford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liana","family":"Fidani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Giuffra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Haynes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Irving","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"James","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Mant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillippa","family":"Newton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Rooke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope","family":"Roques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Talbot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Pericak-Vance","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allen","family":"Roses","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Williamson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Rossor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Owen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[1991,2,21]]},"reference":[{"key":"BF349704a0_CR1","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1126\/science.2880399","volume":"235","author":"P St George-Hyslop","year":"1987","unstructured":"St George-Hyslop, P. et al. Science 235, 885\u2013890 (1987).","journal-title":"Science"},{"key":"BF349704a0_CR2","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1038\/325733a0","volume":"325","author":"J Kang","year":"1987","unstructured":"Kang, J. et al. Nature 325, 733\u2013736 (1987).","journal-title":"Nature"},{"key":"BF349704a0_CR3","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1126\/science.3810169","volume":"235","author":"D Goldgaber","year":"1987","unstructured":"Goldgaber, D., Lerman, M. I., McBride, O. W., Sappiotti, U. & Gajdusek, D. C. Science 235, 877\u2013880 (1987).","journal-title":"Science"},{"key":"BF349704a0_CR4","doi-asserted-by":"publisher","first-page":"4190","DOI":"10.1073\/pnas.84.12.4190","volume":"84","author":"NK Robakis","year":"1987","unstructured":"Robakis, N. K., Ramakrishna, N., Wolfe, G. & Wisniewski, H. M. Proc. natn. Acad. Sci. U.S.A. 84, 4190\u20134194 (1987).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BF349704a0_CR5","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1126\/science.2949367","volume":"235","author":"R Tanzi","year":"1987","unstructured":"Tanzi, R. et al. Science 235, 880\u2013884 (1987).","journal-title":"Science"},{"key":"BF349704a0_CR6","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1038\/329153a0","volume":"329","author":"C Van Broeckhoven","year":"1987","unstructured":"Van Broeckhoven, C. et al. Nature 329, 153\u2013155 (1987).","journal-title":"Nature"},{"key":"BF349704a0_CR7","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1038\/329156a0","volume":"329","author":"R Tanzi","year":"1987","unstructured":"Tanzi, R. et al. Nature 329, 156\u2013157 (1987).","journal-title":"Nature"},{"key":"BF349704a0_CR8","doi-asserted-by":"publisher","first-page":"1507","DOI":"10.1126\/science.3420406","volume":"241","author":"G Schellenberg","year":"1988","unstructured":"Schellenberg, G. et al. Science 241, 1507\u20131510 (1988).","journal-title":"Science"},{"key":"BF349704a0_CR9","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1038\/347194a0","volume":"347","author":"P St George-Hyslop","year":"1990","unstructured":"St George-Hyslop, P. et al. Nature 347, 194\u2013197 (1990).","journal-title":"Nature"},{"key":"BF349704a0_CR10","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/0014-4886(88)90220-8","volume":"102","author":"M Pericak-Vance","year":"1988","unstructured":"Pericak-Vance, M. et al. Expl Neurol. 102, 271\u2013279 (1988).","journal-title":"Expl Neurol."},{"key":"BF349704a0_CR11","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1016\/S0140-6736(89)91725-X","volume":"1","author":"A Goate","year":"1989","unstructured":"Goate, A. et al. Lancet 1, 352\u2013355 (1989).","journal-title":"Lancet"},{"key":"BF349704a0_CR12","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1016\/0888-7543(88)90143-7","volume":"3","author":"R Tanzi","year":"1988","unstructured":"Tanzi, R. et al. Genomics 3, 129\u2013136 (1988).","journal-title":"Genomics"},{"key":"BF349704a0_CR13","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/0888-7543(89)90282-6","volume":"4","author":"A Warren","year":"1989","unstructured":"Warren, A. et al. Genomics 4, 579\u2013591 (1989).","journal-title":"Genomics"},{"key":"BF349704a0_CR14","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1016\/0888-7543(90)90300-J","volume":"8","author":"G Lewis","year":"1990","unstructured":"Lewis, G. et al. Genomics 8, 400\u2013402 (1990).","journal-title":"Genomics"},{"key":"BF349704a0_CR15","doi-asserted-by":"publisher","first-page":"4967","DOI":"10.1093\/nar\/18.16.4967-a","volume":"18","author":"Z Guo","year":"1990","unstructured":"Guo, Z., Sharma, V., Patterson, D. & Litt, M. Nucleic Acids Res. 18, 4967 (1990).","journal-title":"Nucleic Acids Res."},{"key":"BF349704a0_CR16","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1159\/000132810","volume":"51","author":"K Kidd","year":"1989","unstructured":"Kidd, K. et al. Cytogenet. Cell Genet. 51, 622\u2013947 (1989).","journal-title":"Cytogenet. Cell Genet."},{"key":"BF349704a0_CR17","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. Proc. natn. Acad. Sci. U.S.A. 81, 3443\u20133446 (1984).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BF349704a0_CR18","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1007\/978-1-349-20235-5_5","volume-title":"PCR Technology","author":"U Gyllensten","year":"1989","unstructured":"Gyllensten, U. in PCR Technology (ed. Erlich, H. A.) 45\u201360 (Stockton, London, 1989)."},{"key":"BF349704a0_CR19","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/0378-1119(90)90310-N","volume":"87","author":"S Yoshikai","year":"1990","unstructured":"Yoshikai, S., Sasaki, H., Doh-ura, K., Furnya, H. & Sakaki, Y. Gene 87, 257\u2013263 (1990).","journal-title":"Gene"},{"key":"BF349704a0_CR20","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1126\/science.1971458","volume":"248","author":"C Van Broeckhoven","year":"1990","unstructured":"Van Broeckhoven, C. et al. Science 248, 1120\u20131123 (1990).","journal-title":"Science"},{"key":"BF349704a0_CR21","doi-asserted-by":"publisher","first-page":"1124","DOI":"10.1126\/science.2111584","volume":"248","author":"E Levy","year":"1990","unstructured":"Levy, E. et al. Science 248, 1124\u20131126 (1990).","journal-title":"Science"},{"key":"BF349704a0_CR22","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/0092-8674(84)90081-3","volume":"36","author":"D Barker","year":"1984","unstructured":"Barker, D., Schafer, M. & White, R. Cell 36, 131\u2013138 (1984).","journal-title":"Cell"},{"key":"BF349704a0_CR23","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1111\/j.1432-1033.1982.tb07002.x","volume":"128","author":"P Argos","year":"1982","unstructured":"Argos, P., Rao, J. K. M. & Hargrave, P. A. Eur. J. Biochem. 128, 565\u2013575 (1982).","journal-title":"Eur. J. Biochem."},{"key":"BF349704a0_CR24","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/0022-2836(78)90297-8","volume":"120","author":"J Garnier","year":"1978","unstructured":"Garnier, J., Osguthorpe, D. J. & Robson, B. J. molec. Biol. 120, 97\u2013120 (1978).","journal-title":"J. molec. Biol."},{"key":"BF349704a0_CR25","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/0014-5793(87)80439-8","volume":"224","author":"C Gaboriaud","year":"1987","unstructured":"Gaboriaud, C., Bissery, V., Benchetrit, T. & Mornon, J. P. FEBS Lett. 224, 149\u2013155 (1987).","journal-title":"FEBS Lett."},{"key":"BF349704a0_CR26","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/0022-2836(82)90515-0","volume":"157","author":"J Kyte","year":"1982","unstructured":"Kyte, J. & Doolittle R. F. J. molec. Biol. 157, 105\u2013132 (1982).","journal-title":"J. molec. Biol."},{"key":"BF349704a0_CR27","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1016\/0014-5793(86)80917-6","volume":"205","author":"J,M Levin","year":"1986","unstructured":"Levin, J., M., Robson, B. & Garnier, J. FEBS Lett. 205, 303\u2013308 (1986).","journal-title":"FEBS Lett."},{"key":"BF349704a0_CR28","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1016\/0022-2836(74)90404-5","volume":"88","author":"V Lim","year":"1974","unstructured":"Lim, V. J. molec. Biol. 88, 857\u2013872 (1974).","journal-title":"J. molec. Biol."},{"key":"BF349704a0_CR29","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1016\/0022-2836(87)90292-0","volume":"198","author":"J Gibrat","year":"1987","unstructured":"Gibrat, J., Garnier, J. & Robson, B. J. molec. Biol. 198, 425\u2013443 (1987).","journal-title":"J. molec. Biol."},{"key":"BF349704a0_CR30","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1016\/0006-291X(84)91209-9","volume":"120","author":"GG Glenner","year":"1984","unstructured":"Glenner, G. G. & Wong, C. W. Biochem. biophys. Res. Commun. 120, 1131\u20131135 (1984).","journal-title":"Biochem. biophys. Res. Commun."}],"container-title":["Nature"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/349704a0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/349704a0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/349704a0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T09:02:26Z","timestamp":1745917346000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/349704a0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,2,21]]},"references-count":30,"journal-issue":{"issue":"6311","published-print":{"date-parts":[[1991,2,21]]}},"alternative-id":["BF349704a0"],"URL":"https:\/\/doi.org\/10.1038\/349704a0","relation":{},"ISSN":["0028-0836","1476-4687"],"issn-type":[{"value":"0028-0836","type":"print"},{"value":"1476-4687","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,2,21]]},"assertion":[{"value":"11 December 1990","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 1991","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 February 1991","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}