{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T11:29:30Z","timestamp":1791890970156,"version":"4.3.4"},"reference-count":35,"publisher":"Hindawi Limited","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":5356,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2001,9]]},"DOI":"10.1002\/humu.1176","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T04:30:39Z","timestamp":1030249839000},"page":"205-211","source":"Crossref","is-referenced-by-count":106,"title":["APECED mutations in the autoimmune regulator (AIRE) gene"],"prefix":"10.1155","volume":"18","author":[{"given":"Maarit","family":"Heino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\ufffdrt","family":"Peterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Kudoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuyoshi","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamish S.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Krohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2001]]},"reference":[{"key":"BIB01","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1056\/NEJM199006283222601","volume":"322","author":"Ahonen","year":"1990","journal-title":"N Engl J Med"},{"key":"BIB02","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/hmg\/8.2.259","volume":"8","author":"Bj\ufffdrses","year":"1999","journal-title":"Hum Mol Genet"},{"key":"BIB03","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1086\/302765","volume":"66","author":"Bj\ufffdrses","year":"2000","journal-title":"Am J Hum Genet"},{"key":"BIB04","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1101\/gr.9.2.158","volume":"9","author":"Blechschmidt","year":"1999","journal-title":"Gen Res"},{"key":"BIB05","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/humu.1178","volume":"18","author":"Cihakova","year":"2001","journal-title":"Hum Mutat"},{"key":"BIB06","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"BIB07","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/ng1297-399","volume":"17","year":"1997","journal-title":"Nat Genet"},{"key":"BIB08","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/S0968-0004(98)01231-6","volume":"23","author":"Gibson","year":"1998","journal-title":"Trends Biochem Sci"},{"key":"BIB09","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1242\/jcs.112.5.733","volume":"112","author":"Guldner","year":"1999","journal-title":"J Cell Sci"},{"key":"BIB10","first-page":"4434","volume":"85","author":"Gylling","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"BIB11","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1006\/bbrc.1999.0308","volume":"257","author":"Heino","year":"1999a","journal-title":"Biochem Biophys Res Co"},{"key":"BIB12","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6","volume":"13","author":"Heino","year":"1999b","journal-title":"Hum Mutat"},{"key":"BIB13","doi-asserted-by":"crossref","first-page":"1884","DOI":"10.1002\/1521-4141(200007)30:7<1884::AID-IMMU1884>3.0.CO;2-P","volume":"30","author":"Heino","year":"2000","journal-title":"Eur J Immunol"},{"key":"BIB14","first-page":"2922","volume":"85","author":"Ishii","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"BIB15","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/nar\/29.1.327","volume":"29","author":"Minoshima","year":"2001","journal-title":"Nucleic Acid Res"},{"key":"BIB16","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1006\/bbrc.1999.0223","volume":"255","author":"Mittaz","year":"1999","journal-title":"Biochem Biophys Res Co"},{"key":"BIB17","first-page":"4204","volume":"83","author":"Myhre","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"BIB18","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1046\/j.1365-2265.2001.01201.x","volume":"54","author":"Myhre","year":"2001","journal-title":"Clin Endocrinol"},{"key":"BIB19","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng1297-393","volume":"17","author":"Nagamine","year":"1997","journal-title":"Nat Genet"},{"key":"BIB20","doi-asserted-by":"crossref","first-page":"154","DOI":"10.3928\/0090-4481-19800401-07","volume":"9","author":"Neufeld","year":"1980","journal-title":"Pediatric Annals"},{"key":"BIB21","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1086\/302145","volume":"63","author":"Pearce","year":"1998","journal-title":"Am J Hum Genet"},{"key":"BIB22","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1055\/s-2007-979814","volume":"28","author":"Perheentupa","year":"1996","journal-title":"Horm Metab Res"},{"key":"BIB23","doi-asserted-by":"crossref","first-page":"16802","DOI":"10.1074\/jbc.M908944199","volume":"275","author":"Pitk\ufffdnen","year":"2000","journal-title":"J Biol Chem"},{"key":"BIB24","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1038\/ng0894-451","volume":"7","author":"Romeo","year":"1994","journal-title":"Nat Genet"},{"key":"BIB25","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1007\/s004390050846","volume":"103","author":"Rosatelli","year":"1998","journal-title":"Hum Genet"},{"key":"BIB26","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1530\/eje.0.1440347","volume":"144","author":"Saugier-Veber","year":"2001","journal-title":"Eur J Endocrinol"},{"key":"BIB27","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1210\/mend.12.8.0143","volume":"12","author":"Scott","year":"1998","journal-title":"Mol Endocrinol"},{"key":"BIB28","first-page":"460","volume":"85","author":"S\ufffdderbergh","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"BIB29","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S0171-2985(97)80051-4","volume":"198","author":"Sternsdorf","year":"1997","journal-title":"Immunobiology"},{"key":"BIB30","doi-asserted-by":"crossref","first-page":"12555","DOI":"10.1074\/jbc.274.18.12555","volume":"274","author":"Sternsdorf","year":"1999","journal-title":"J Biol Chem"},{"key":"BIB31","first-page":"688","volume":"85","author":"Vaidya","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"BIB32","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s004390050891","volume":"103","author":"Wang","year":"1998","journal-title":"Hum Genet"},{"key":"BIB33","first-page":"844","volume":"84","author":"Ward","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"BIB34","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1136\/jmg.29.11.824","volume":"29","author":"Zlotogora","year":"1992","journal-title":"J Med Genet"},{"key":"BIB35","doi-asserted-by":"crossref","first-page":"1976","DOI":"10.4049\/jimmunol.165.4.1976","volume":"165","author":"Zuklys","year":"2000","journal-title":"J Immunol"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1176","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1176","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T10:34:12Z","timestamp":1680518052000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1176"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2001,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1176","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001]]}}}