{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:00:18Z","timestamp":1790679618239,"version":"4.1.0"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"16","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mol. Genet."],"published-print":{"date-parts":[[2016,8,15]]},"DOI":"10.1093\/hmg\/ddw203","type":"journal-article","created":{"date-parts":[[2016,7,14]],"date-time":"2016-07-14T04:35:54Z","timestamp":1468470954000},"page":"3578-3587","source":"Crossref","is-referenced-by-count":46,"title":["Deletion of amelotin exons 3\u20136 is associated with amelogenesis imperfecta"],"prefix":"10.1093","volume":"25","author":[{"given":"Claire E.L.","family":"Smith","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina","family":"Murillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J.","family":"Brookes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James A.","family":"Poulter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Kirkham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris F.","family":"Inglehearn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan J.","family":"Mighell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2016,7,12]]},"reference":[{"key":"2016122300553001000_25.16.3578.1","doi-asserted-by":"publisher","DOI":"10.1177\/10454411000110040601"},{"key":"2016122300553001000_25.16.3578.2","doi-asserted-by":"publisher","DOI":"10.1177\/00220345790580024901"},{"key":"2016122300553001000_25.16.3578.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5320(70)90068-7"},{"key":"2016122300553001000_25.16.3578.4","doi-asserted-by":"publisher","DOI":"10.1515\/BC.2008.080"},{"key":"2016122300553001000_25.16.3578.5","doi-asserted-by":"publisher","DOI":"10.1177\/10454411980090020101"},{"key":"2016122300553001000_25.16.3578.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5320(78)90053-9"},{"key":"2016122300553001000_25.16.3578.7","doi-asserted-by":"publisher","DOI":"10.1007\/BF02349044"},{"key":"2016122300553001000_25.16.3578.8","unstructured":"Witkop C.J. Sauk J.J. (1976) Heritable defects of enamel. CV Mosby Company, St. Louis, Missouri, USA."},{"key":"2016122300553001000_25.16.3578.9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0528.1986.tb01493.x"},{"key":"2016122300553001000_25.16.3578.10","doi-asserted-by":"publisher","DOI":"10.14219\/jada.archive.2005.0233"},{"key":"2016122300553001000_25.16.3578.11","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt616"},{"key":"2016122300553001000_25.16.3578.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.01.003"},{"key":"2016122300553001000_25.16.3578.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.020"},{"key":"2016122300553001000_25.16.3578.14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.16.1673"},{"key":"2016122300553001000_25.16.3578.15","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90187-J"},{"key":"2016122300553001000_25.16.3578.16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.020"},{"key":"2016122300553001000_25.16.3578.17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024505"},{"key":"2016122300553001000_25.16.3578.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.014"},{"key":"2016122300553001000_25.16.3578.19","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017657"},{"key":"2016122300553001000_25.16.3578.20","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt611"},{"key":"2016122300553001000_25.16.3578.21","first-page":"1787","article-title":"Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition","volume":"148","author":"McGrath","year":"1996","journal-title":"Am. J. Pathol"},{"key":"2016122300553001000_25.16.3578.22","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.76"},{"key":"2016122300553001000_25.16.3578.23","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1341"},{"key":"2016122300553001000_25.16.3578.24","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/ajmg.a.30521","article-title":"DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am.","volume":"133A","author":"Dong","year":"2005","journal-title":"J. Med. Genet. Part a"},{"key":"2016122300553001000_25.16.3578.25","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu247"},{"key":"2016122300553001000_25.16.3578.26","doi-asserted-by":"publisher","DOI":"10.1177\/154405910508401207"},{"key":"2016122300553001000_25.16.3578.27","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20060662"},{"key":"2016122300553001000_25.16.3578.28","doi-asserted-by":"crossref","first-page":"371.","DOI":"10.3389\/fphys.2014.00371","article-title":"Maturation and beyond: proteins in the developmental continuum from enamel epithelium to junctional epithelium","volume":"5","author":"Ganss","year":"2014","journal-title":"Front. Physiol"},{"key":"2016122300553001000_25.16.3578.29","doi-asserted-by":"publisher","DOI":"10.1177\/154405910508400102"},{"key":"2016122300553001000_25.16.3578.30","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2411"},{"key":"2016122300553001000_25.16.3578.31","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035200"},{"key":"2016122300553001000_25.16.3578.32","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514566214"},{"key":"2016122300553001000_25.16.3578.33","doi-asserted-by":"publisher","DOI":"10.1186\/1746-160X-3-8"},{"key":"2016122300553001000_25.16.3578.34","doi-asserted-by":"publisher","DOI":"10.1177\/0022034512460551"},{"key":"2016122300553001000_25.16.3578.35","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"2016122300553001000_25.16.3578.36","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts526"},{"key":"2016122300553001000_25.16.3578.37","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt958"},{"key":"2016122300553001000_25.16.3578.38","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2004.05.011"},{"key":"2016122300553001000_25.16.3578.39","doi-asserted-by":"publisher","DOI":"10.1159\/000259731"},{"key":"2016122300553001000_25.16.3578.40","doi-asserted-by":"publisher","DOI":"10.1038\/88084"},{"key":"2016122300553001000_25.16.3578.41","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2402"},{"key":"2016122300553001000_25.16.3578.42","doi-asserted-by":"crossref","first-page":"138","DOI":"10.3109\/03008207.2014.923852","article-title":"Efficient trafficking of acidic proteins out of the endoplasmic reticulum involves a conserved amino terminal IleProVal (IPV)-like tripeptide motif","volume":"55 Suppl 1","author":"Nam","year":"2014","journal-title":"Connect. Tissue Res"},{"key":"2016122300553001000_25.16.3578.43","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1573"},{"key":"2016122300553001000_25.16.3578.44","doi-asserted-by":"publisher","DOI":"10.1159\/000102679"},{"key":"2016122300553001000_25.16.3578.45","doi-asserted-by":"publisher","DOI":"10.1186\/s12862-015-0329-x"},{"key":"2016122300553001000_25.16.3578.46","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0133314"},{"key":"2016122300553001000_25.16.3578.47","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.matbio.2015.11.007","article-title":"Maturation stage enamel malformations in Amtn and Klk4 null mice","volume":"52-54","author":"Nunez","year":"2016","journal-title":"Matrix Biol"},{"key":"2016122300553001000_25.16.3578.48","doi-asserted-by":"publisher","DOI":"10.1006\/jhev.1998.0229"},{"key":"2016122300553001000_25.16.3578.49","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-9969(96)00096-9"},{"key":"2016122300553001000_25.16.3578.50","doi-asserted-by":"publisher","DOI":"10.1159\/000016588"},{"key":"2016122300553001000_25.16.3578.51","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1111\/j.1600-0722.2011.00870.x","article-title":"Identification of amelotin- and ODAM-interacting enamel matrix proteins using the yeast two-hybrid system","volume":"119 Suppl 1","author":"Holcroft","year":"2011","journal-title":"Eur J Oral Sci"},{"key":"2016122300553001000_25.16.3578.52","doi-asserted-by":"publisher","DOI":"10.1177\/0022034515572442"},{"key":"2016122300553001000_25.16.3578.53","doi-asserted-by":"publisher","DOI":"10.1007\/s00418-011-0901-4"},{"key":"2016122300553001000_25.16.3578.54","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt642"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article\/2525821\/Deletion-of-amelotin-exons-36-is-associated-with","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,24]],"date-time":"2017-06-24T18:22:18Z","timestamp":1498328538000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddw203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,12]]},"references-count":54,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2016,12,23]]},"published-print":{"date-parts":[[2016,8,15]]}},"alternative-id":["10.1093\/hmg\/ddw203"],"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddw203","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,12]]}}}