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In humans eight different types of the syndrome are known, of which a short overview is given. The clinical features and a novel mutation of a patient with HPS type 5 are described here.<\/jats:p>","DOI":"10.1111\/j.1600-0609.2007.01024.x","type":"journal-article","created":{"date-parts":[[2008,3,6]],"date-time":"2008-03-06T10:28:38Z","timestamp":1204799318000},"page":"356-360","source":"Crossref","is-referenced-by-count":12,"title":["A novel mutation in a Turkish patient with Hermansky\u2013Pudlak syndrome type 5"],"prefix":"10.1111","volume":"80","author":[{"given":"Lindy\u2010Anne","family":"Korswagen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan","family":"Huizing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suat","family":"Simsek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeroen J.W.M.","family":"Janssen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja","family":"Zweegman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,12,21]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V14.2.162.162"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0854.2000.011103.x"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(88)33152-0"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804303381803"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00044-6"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1087"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2005.00289.x"},{"key":"e_1_2_8_9_2","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s00439-003-0933-5","article-title":"Hermansky\u2013Pudlak syndrome type 4 (HPS\u20104): clinical and molecular characteristics","volume":"113","author":"Anderson PD","year":"2003","journal-title":"Hum Genet"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1532040100"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80170-7"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2004.00208.x"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2004.0171.x"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1229"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/499338"},{"key":"e_1_2_8_16_2","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook J","year":"1989"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-835674"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2002.02038.x"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.86.4.297"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1139\/G07-032"},{"key":"e_1_2_8_21_2","first-page":"333","article-title":"Albinism and Hermansky\u2013Pudlak syndrome in Puerto Rico","volume":"82","author":"Witkop CJ","year":"1990","journal-title":"Bol Assoc Med P Rico"},{"key":"e_1_2_8_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700034"},{"key":"e_1_2_8_23_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.145.5.923"},{"key":"e_1_2_8_24_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E06-12-1066"},{"key":"e_1_2_8_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9463"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0609.2007.01024.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0609.2007.01024.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T11:49:07Z","timestamp":1697024947000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0609.2007.01024.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,21]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,4]]}},"alternative-id":["10.1111\/j.1600-0609.2007.01024.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0609.2007.01024.x","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,21]]}}}