{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T00:13:04Z","timestamp":1789776784640,"version":"4.0.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2013,10,1]],"date-time":"2013-10-01T00:00:00Z","timestamp":1380585600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,11,20]],"date-time":"2014-11-20T00:00:00Z","timestamp":1416441600000},"content-version":"vor","delay-in-days":415,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"name":"EURO-CGD"},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"published-print":{"date-parts":[[2013,10]]},"DOI":"10.1016\/j.bbadis.2013.05.001","type":"journal-article","created":{"date-parts":[[2013,5,18]],"date-time":"2013-05-18T21:54:31Z","timestamp":1368914071000},"page":"1662-1672","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47phox-deficient chronic granulomatous disease"],"prefix":"10.1016","volume":"1832","author":[{"given":"Astghik","family":"Hayrapetyan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula C.D.","family":"Dencher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"van Leeuwen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"de Boer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Roos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2013.05.001_bb0005","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s12016-009-8136-z","article-title":"Chronic granulomatous disease","volume":"38","author":"Holland","year":"2010","journal-title":"Clin. Rev. Allergy Immunol."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0010","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/s00418-004-0679-8","article-title":"Assembly of the phagocyte NADPH oxidase","volume":"122","author":"Nauseef","year":"2004","journal-title":"Histochem. Cell Biol."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0015","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.bcmd.2010.01.009","article-title":"Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)","volume":"44","author":"Roos","year":"2010","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0020","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1172\/JCI119721","article-title":"A p47-phox pseudogene carries the most common mutation causing p47-phox deficient chronic granulomatous disease","volume":"100","author":"G\u00f6rlach","year":"1997","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0025","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1006\/geno.1999.5815","article-title":"A complete physical contig and partial transcript map of Williams syndrome critical region","volume":"58","author":"Hockenhull","year":"1999","journal-title":"Genomics"},{"key":"10.1016\/j.bbadis.2013.05.001_bb0030","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1101\/gr.3944605","article-title":"Evolutionary mechanisms shaping the genomic structure of the Williams\u2013Beuren syndrome chromosomal region at human 7q11.23","volume":"15","author":"Antonell","year":"2006","journal-title":"Genome Res."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0035","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1006\/bcmd.2000.0274","article-title":"Genomic structure of the human p47-phox (NCF1) gene","volume":"26","author":"Chanock","year":"2000","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0040","doi-asserted-by":"crossref","first-page":"2753","DOI":"10.1073\/pnas.88.7.2753","article-title":"Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat","volume":"88","author":"Casimir","year":"1991","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0045","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1172\/JCI116171","article-title":"In vitro reconstitution of the respiratory burst in B Lymphoblasts from p47-phox-deficient chronic granulomatous disease","volume":"91","author":"Volpp","year":"1993","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0050","doi-asserted-by":"crossref","first-page":"1372","DOI":"10.1006\/bbrc.1994.1382","article-title":"Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency","volume":"199","author":"Iwata","year":"1994","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0055","doi-asserted-by":"crossref","first-page":"2150","DOI":"10.1182\/blood.V95.6.2150","article-title":"Recombination events between the p47-phoxgene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease","volume":"95","author":"Roesler","year":"2000","journal-title":"Blood"},{"key":"10.1016\/j.bbadis.2013.05.001_bb0060","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/S0301-472X(00)00646-9","article-title":"Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: the significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes","volume":"29","author":"V\u00e1zquez","year":"2001","journal-title":"Exp. Hematol."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0065","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1182\/blood-2002-03-0861","article-title":"Identification of a novel NCF1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47\u00b0 chronic granulomatous disease carrier detection","volume":"100","author":"Heyworth","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.bbadis.2013.05.001_bb0070","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1016\/S0301-472X(01)00731-7","article-title":"Gene-scan method for the recognition of carriers and patients with p47(phox) deficient autosomal recessive chronic granulomatous disease","volume":"29","author":"Dekker","year":"2001","journal-title":"Exp. Hematol."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0075","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1002\/humu.20413","article-title":"Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase","volume":"27","author":"Roos","year":"2006","journal-title":"Hum. Mutat."},{"issue":"2008","key":"10.1016\/j.bbadis.2013.05.001_bb0080","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/978-1-59745-066-9_8","article-title":"MLPA for prenatal diagnosis of commonly occurring aneuploidies","volume":"444","author":"Schouten","year":"2008","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0085","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1006\/abio.1997.2391","article-title":"A stable nonfluorescent derivative of resorufin for the fluorometric determination of trace hydrogen peroxide: applications in detecting the activity of phagocyte NADPH oxidase and other oxidases","volume":"253","author":"Zhou","year":"1997","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0090","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1006\/mgme.1999.2864","article-title":"Alu repeats and human disease","volume":"67","author":"Deininger","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0105","doi-asserted-by":"crossref","DOI":"10.1007\/s00277-012-1661-5","article-title":"Alu repeat-induced deletions in chronic granulomatous disease: A cause for not only p67-phox but also p47-phox deficiency","author":"Winkler","year":"2013","journal-title":"Ann. Hematol."},{"key":"10.1016\/j.bbadis.2013.05.001_bb0100","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1471-2156-11-13","article-title":"A copy number variation in human NCF1 and its pseudogenes","volume":"11","author":"Brunson","year":"2010","journal-title":"BMC Genet."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443913001555?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443913001555?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,7,26]],"date-time":"2020-07-26T22:21:44Z","timestamp":1595802104000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443913001555"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10]]},"references-count":20,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["S0925443913001555"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2013.05.001","relation":{},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2013,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47phox-deficient chronic granulomatous disease","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbadis.2013.05.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}