{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:43:27Z","timestamp":1740141807467,"version":"3.37.3"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T00:00:00Z","timestamp":1691539200000},"content-version":"vor","delay-in-days":8,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Swedish Research Council for Medicine and Health"},{"name":"Knut and Wallenberg Foundation"},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004348","name":"Stockholm County Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004348","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004047","name":"Karolinska Institutet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004047","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Autoantibodies against the adrenal enzyme 21-hydroxylase is a hallmark manifestation in autoimmune Addison's disease (AAD). Steroid 21-hydroxylase is encoded by CYP21A2, which is located in the human leucocyte antigen (HLA) region together with the highly similar pseudogene CYP21A1P. A high level of copy number variation is seen for the 2 genes, and therefore, we asked whether genetic variation of the CYP21 genes is associated with AAD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>Case-control study on patients with AAD and healthy controls.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Using next-generation DNA sequencing, we estimated the copy number of CYP21A2 and CYP21A1P, together with HLA alleles, in 479 Swedish patients with AAD and autoantibodies against 21-hydroxylase and in 1393 healthy controls.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>With 95% of individuals carrying 2 functional 21-hydroxylase genes, no difference in CYP21A2 copy number was found when comparing patients and controls. In contrast, we discovered a lower copy number of the pseudogene CYP21A1P among AAD patients (P = 5 \u00d7 10\u221244), together with associations of additional nucleotide variants, in the CYP21 region. However, the strongest association was found for HLA-DQB1*02:01 (P = 9 \u00d7 10\u221263), which, in combination with the DRB1*04:04-DQB1*03:02 haplotype, imposed the greatest risk of AAD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We identified strong associations between copy number variants in the CYP21 region and risk of AAD, although these associations most likely are due to linkage disequilibrium with disease-associated HLA class II alleles.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejendo\/lvad102","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T03:39:08Z","timestamp":1691552348000},"page":"235-241","source":"Crossref","is-referenced-by-count":0,"title":["Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease"],"prefix":"10.1093","volume":"189","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5872-4253","authenticated-orcid":false,"given":"Christian","family":"Lundtoft","sequence":"first","affiliation":[{"name":"Department of Medical Sciences, Uppsala University , Uppsala , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Eriksson","sequence":"additional","affiliation":[{"name":"Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Instituttet , Stockholm , Sweden"},{"name":"Department of Clinical Genetics, Uppsala University Hospital , Uppsala , Sweden"},{"name":"Department of Immunology, Genetics and Pathology, Uppsala University , Uppsala , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Bianchi","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University , Uppsala , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maribel","family":"Aranda-Guill\u00e9n","sequence":"additional","affiliation":[{"name":"Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Instituttet , Stockholm , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nils","family":"Landegren","sequence":"additional","affiliation":[{"name":"Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Instituttet , Stockholm , Sweden"},{"name":"Department of Medical Biochemistry and Microbiology, Uppsala University , Uppsala , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8259-3863","authenticated-orcid":false,"given":"Solbritt","family":"Rantap\u00e4\u00e4-Dahlqvist","sequence":"additional","affiliation":[{"name":"Department of Public Health and Clinical Medicine\/Rheumatology, Ume\u00e5 University , Ume\u00e5 , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"S\u00f6derkvist","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Clinical Sciences, Linko\u0308ping University , Linko\u0308ping , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer R S","family":"Meadows","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University , Uppsala , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"The DISSECT Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"R\u00f6nnblom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin","family":"Lindblad-Toh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Wahren-Herlenius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gunnel","family":"Nordmark","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid E","family":"Lundberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann-Christine","family":"Syv\u00e4nen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna K","family":"Sandling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey V","family":"Kozyrev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maija-Leena","family":"Eloranta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solbritt","family":"Rantap\u00e4\u00e4-Dahlqvist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer R S","family":"Meadows","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessika","family":"Nordin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna","family":"Dahlqvist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Argyri","family":"Mathioudaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiana H G","family":"Farias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karolina","family":"Tandre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"The ImmunoArray Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin","family":"Lindblad-Toh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerli Rosengren","family":"Pielberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Lobell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c5sa","family":"Karlsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Mur\u00e9n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00f6ran","family":"Andersson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin M","family":"Ahlgren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"R\u00f6nnblom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nils","family":"Landegren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olle","family":"K\u00e4mpe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"S\u00f6derkvist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"The Swedish Addison Registry Study Group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna-Karin","family":"\u00c5kerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna-Lena","family":"Hulting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bengt","family":"Lindberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Lundberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gudmundur","family":"Johannsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jakob","family":"Skov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanette","family":"Wahlberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karel","family":"Duchen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magnus","family":"Isaksson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Elfving","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Halldin","family":"Stenlid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Landin-Olsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ola","family":"Nilsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olle","family":"K\u00e4mpe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olov","family":"Ekwall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per","family":"Dahlqvist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ragnhildur","family":"Bergthorsdottir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricard","family":"Nerg\u00e5rdh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigridur","family":"Bj\u00f6rnsdottir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Bensing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tommy","family":"Olsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9193-2860","authenticated-orcid":false,"given":"Sophie","family":"Bensing","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Karolinska University Hospital , Stockholm , Sweden"},{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet , Stockholm , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerli Rosengren","family":"Pielberg","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University , Uppsala , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin","family":"Lindblad-Toh","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University , Uppsala , Sweden"},{"name":"Broad Institute, MIT and Harvard , Cambridge, MA , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"R\u00f6nnblom","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Uppsala University , Uppsala , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6091-9914","authenticated-orcid":false,"given":"Olle","family":"K\u00e4mpe","sequence":"additional","affiliation":[{"name":"Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Instituttet , Stockholm , Sweden"},{"name":"Department of Endocrinology, Karolinska University Hospital , Stockholm , Sweden"},{"name":"Department of Clinical Science, University of Bergen , Bergen , Norway"},{"name":"K.G. Jebsen Center for Autoimmune Diseases, University of Bergen , Bergen , Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,8,9]]},"reference":[{"issue":"2","key":"2023082106550242700_lvad102-B1","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1111\/joim.12162","article-title":"Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency","volume":"275","author":"Husebye","year":"2014","journal-title":"J Intern Med"},{"issue":"10274","key":"2023082106550242700_lvad102-B2","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/S0140-6736(21)00136-7","article-title":"Adrenal insufficiency","volume":"397","author":"Husebye","year":"2021","journal-title":"Lancet"},{"issue":"3","key":"2023082106550242700_lvad102-B3","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1007\/s12020-017-1441-z","article-title":"Heritability of Addison's disease and prevalence of associated autoimmunity in a cohort of 112,100 Swedish twins","volume":"58","author":"Skov","year":"2017","journal-title":"Endocrine"},{"issue":"12","key":"2023082106550242700_lvad102-B4","doi-asserted-by":"crossref","first-page":"4882","DOI":"10.1210\/jc.2009-1368","article-title":"Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry","volume":"94","author":"Erichsen","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2023082106550242700_lvad102-B5","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1038\/s41467-021-21015-8","article-title":"GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility","volume":"12","author":"Eriksson","year":"2021","journal-title":"Nat Commun"},{"issue":"8809","key":"2023082106550242700_lvad102-B6","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1016\/0140-6736(92)91829-W","article-title":"21-Hydroxylase, a major autoantigen in idiopathic Addison\u2019s disease","volume":"339","author":"Winqvist","year":"1992","journal-title":"Lancet"},{"issue":"2","key":"2023082106550242700_lvad102-B7","first-page":"379","article-title":"Clinical and immunological characteristics of autoimmune Addison disease: a nationwide Swedish multicenter study","volume":"102","author":"Dalin","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2023082106550242700_lvad102-B8","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1073\/pnas.82.4.1089","article-title":"Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man","volume":"82","author":"White","year":"1985","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"11","key":"2023082106550242700_lvad102-B9","doi-asserted-by":"crossref","first-page":"8466","DOI":"10.1016\/S0021-9258(17)37217-4","article-title":"Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication","volume":"269","author":"Shen","year":"1994","journal-title":"J Biol Chem"},{"issue":"9","key":"2023082106550242700_lvad102-B10","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1073\/pnas.83.9.2841","article-title":"Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene","volume":"83","author":"Higashi","year":"1986","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"14","key":"2023082106550242700_lvad102-B11","doi-asserted-by":"crossref","first-page":"5111","DOI":"10.1073\/pnas.83.14.5111","article-title":"Structure of human steroid 21-hydroxylase genes","volume":"83","author":"White","year":"1986","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"7813","key":"2023082106550242700_lvad102-B12","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/s41586-020-2277-x","article-title":"Complement genes contribute sex-biased vulnerability in diverse disorders","volume":"582","author":"Kamitaki","year":"2020","journal-title":"Nature"},{"issue":"8","key":"2023082106550242700_lvad102-B13","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1002\/art.42122","article-title":"Complement C4 copy number variation is linked to SSA\/Ro and SSB\/La autoantibodies in systemic inflammatory autoimmune diseases","volume":"74","author":"Lundtoft","year":"2022","journal-title":"Arthritis Rheumatol"},{"issue":"2","key":"2023082106550242700_lvad102-B14","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/0198-8859(94)90006-X","article-title":"Major histocompatibility complex class II and III in Addison's disease MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility","volume":"41","author":"Partanen","year":"1994","journal-title":"Hum Immunol"},{"issue":"1","key":"2023082106550242700_lvad102-B15","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/j.1399-0039.1995.tb02478.x","article-title":"Steroid 21-hydroxylase gene polymorphism in Addison\u2019s disease patients","volume":"46","author":"Peterson","year":"1995","journal-title":"Tissue Antigens"},{"issue":"6","key":"2023082106550242700_lvad102-B16","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1530\/EJE-14-0432","article-title":"CYP21A2 polymorphisms in patients with autoimmune Addison\u2019s disease, and linkage disequilibrium to HLA risk alleles","volume":"171","author":"Br\u00f8nstad","year":"2014","journal-title":"Eur J Endocrinol"},{"issue":"6","key":"2023082106550242700_lvad102-B17","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1111\/joim.12569","article-title":"Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison\u2019s disease","volume":"280","author":"Eriksson","year":"2016","journal-title":"J Intern Med"},{"issue":"1","key":"2023082106550242700_lvad102-B18","doi-asserted-by":"crossref","first-page":"8395","DOI":"10.1038\/s41598-018-26842-2","article-title":"Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison\u2019s disease in Sweden","volume":"8","author":"Eriksson","year":"2018","journal-title":"Sci Rep"},{"issue":"1","key":"2023082106550242700_lvad102-B19","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1136\/annrheumdis-2020-218636","article-title":"Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing","volume":"80","author":"Sandling","year":"2021","journal-title":"Ann Rheum Dis"},{"key":"2023082106550242700_lvad102-B20","doi-asserted-by":"crossref","first-page":"659042","DOI":"10.3389\/fgene.2021.659042","article-title":"Association of protective HLA-A with HLA-B\u221727 positive ankylosing spondylitis","volume":"12","author":"Nordin","year":"2021","journal-title":"Front Genet"},{"issue":"3","key":"2023082106550242700_lvad102-B21","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/ng.3200","article-title":"Large multiallelic copy number variations in humans","volume":"47","author":"Handsaker","year":"2015","journal-title":"Nat Genet"},{"issue":"30","key":"2023082106550242700_lvad102-B22","doi-asserted-by":"crossref","first-page":"8059","DOI":"10.1073\/pnas.1707945114","article-title":"Fast and accurate HLA typing from short-read next-generation sequence data with xHLA","volume":"114","author":"Xie","year":"2017","journal-title":"Proc Natl Acad Sci U S A"},{"volume-title":"R: A Language and Environment for Statistical Computing","year":"2018","author":"R Core Team","key":"2023082106550242700_lvad102-B23"},{"issue":"11","key":"2023082106550242700_lvad102-B24","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1002\/j.1460-2075.1986.tb04582.x","article-title":"Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity","volume":"5","author":"Yu","year":"1986","journal-title":"EMBO J"},{"issue":"53","key":"2023082106550242700_lvad102-B25","doi-asserted-by":"crossref","first-page":"38097","DOI":"10.1074\/jbc.274.53.38097","article-title":"Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene","volume":"274","author":"Wijesuriya","year":"1999","journal-title":"J Biol Chem"},{"issue":"7","key":"2023082106550242700_lvad102-B26","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/s41574-022-00653-y","article-title":"The genetics of autoimmune Addison disease: past, present and future","volume":"18","author":"R\u00f8yrvik","year":"2022","journal-title":"Nat Rev Endocrinol"},{"issue":"7","key":"2023082106550242700_lvad102-B27","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1016\/j.molimm.2008.11.018","article-title":"Great genotypic and phenotypic diversities associated with copy-number variations of complement C4 and RP-C4-CYP21-TNX (RCCX) modules: a comparison of Asian-Indian and European American populations","volume":"46","author":"Saxena","year":"2009","journal-title":"Mol Immunol"},{"issue":"12","key":"2023082106550242700_lvad102-B28","doi-asserted-by":"crossref","first-page":"4436","DOI":"10.1073\/pnas.85.12.4436","article-title":"Characterization of frequent deletions causing steroid 21-hydroxylase deficiency","volume":"85","author":"White","year":"1988","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"13","key":"2023082106550242700_lvad102-B29","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1056\/NEJMra1909786","article-title":"Congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"383","author":"Merke","year":"2020","journal-title":"N Engl J Med"},{"issue":"10","key":"2023082106550242700_lvad102-B30","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1038\/s41431-020-0653-5","article-title":"EMQN Best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency","volume":"28","author":"Baumgartner-Parzer","year":"2020","journal-title":"Eur J Hum Genet"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ejendo\/advance-article-pdf\/doi\/10.1093\/ejendo\/lvad102\/51059090\/lvad102.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/189\/2\/235\/51176378\/lvad102.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/189\/2\/235\/51176378\/lvad102.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T06:55:23Z","timestamp":1692600923000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/189\/2\/235\/7239340"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,8,2]]}},"URL":"https:\/\/doi.org\/10.1093\/ejendo\/lvad102","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"type":"print","value":"0804-4643"},{"type":"electronic","value":"1479-683X"}],"subject":[],"published-other":{"date-parts":[[2023,8]]},"published":{"date-parts":[[2023,8]]}}}