{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T11:03:49Z","timestamp":1783595029469,"version":"3.55.0"},"reference-count":11,"publisher":"Georg Thieme Verlag KG","issue":"04","funder":[{"name":"Wellcome Trust","award":["093994"],"award-info":[{"award-number":["093994"]}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"crossref","award":["RG\/09\/007\/27917"],"award-info":[{"award-number":["RG\/09\/007\/27917"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"crossref","award":["ISG, FI10\/00535 and JRP, PI10\/02594"],"award-info":[{"award-number":["ISG, FI10\/00535 and JRP, PI10\/02594"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Thromb Haemost"],"published-print":{"date-parts":[[2013]]},"DOI":"10.1160\/th12-11-0876","type":"journal-article","created":{"date-parts":[[2013,1,31]],"date-time":"2013-01-31T10:49:47Z","timestamp":1359629387000},"page":"766-768","source":"Crossref","is-referenced-by-count":26,"title":["Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: Identification of the second HPS7 mutation in a patient presenting late in life"],"prefix":"10.1160","volume":"109","author":[{"given":"Gillian C.","family":"Lowe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Guiu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Chapman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Rivera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Lordkipanidz\u00e9","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Dovlatova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Wilde","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve P.","family":"Watson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil V.","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the UK GAPP collaborative","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2017,11,22]]},"reference":[{"key":"10.1160\/TH12-11-0876-1","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1136\/bmj.1.6003.219-c","volume":"45","author":"Davies","year":"1976","journal-title":"Q J Med"},{"key":"10.1160\/TH12-11-0876-2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2004.05.001"},{"key":"10.1160\/TH12-11-0876-3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2005.00289.x"},{"key":"10.1160\/TH12-11-0876-4","doi-asserted-by":"publisher","DOI":"10.3109\/13816819009020986"},{"key":"10.1160\/TH12-11-0876-5","doi-asserted-by":"publisher","DOI":"10.1086\/499338"},{"key":"10.1160\/TH12-11-0876-6","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-07-444281"},{"key":"10.1160\/TH12-11-0876-7","doi-asserted-by":"publisher","DOI":"10.1017\/S0016672300029608"},{"key":"10.1160\/TH12-11-0876-8","doi-asserted-by":"publisher","DOI":"10.1038\/ng1229"},{"key":"10.1160\/TH12-11-0876-9","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9097"},{"key":"10.1160\/TH12-11-0876-10","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s00439-003-0933-5","volume":"113","author":"Anderson","year":"2003","journal-title":"Hum Genet"},{"key":"10.1160\/TH12-11-0876-11","doi-asserted-by":"publisher","DOI":"10.2119\/molmed.2011.00198"}],"container-title":["Thrombosis and Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1160\/TH12-11-0876.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,21]],"date-time":"2020-07-21T14:00:17Z","timestamp":1595340017000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1160\/TH12-11-0876"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":11,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2017,11,22]]},"published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1160\/th12-11-0876","relation":{},"ISSN":["0340-6245","2567-689X"],"issn-type":[{"value":"0340-6245","type":"print"},{"value":"2567-689X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}