{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T13:47:20Z","timestamp":1783086440080,"version":"3.54.6"},"reference-count":36,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2003,11,1]],"date-time":"2003-11-01T00:00:00Z","timestamp":1067644800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2003,11,1]],"date-time":"2003-11-01T00:00:00Z","timestamp":1067644800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["ajkd.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Kidney Diseases"],"published-print":{"date-parts":[[2003,11]]},"DOI":"10.1016\/j.ajkd.2003.08.002","type":"journal-article","created":{"date-parts":[[2009,9,23]],"date-time":"2009-09-23T16:57:06Z","timestamp":1253725026000},"page":"952-959","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"title":["Autosomal recessive Alport\u2019s syndrome and benign familial hematuria are collagen type IV diseases"],"prefix":"10.1016","volume":"42","author":[{"given":"B\u00e1rbara Taz\u00f3n","family":"Vega","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e8lia","family":"Badenas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabet","family":"Ars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xose","family":"Lens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montse","family":"Mil\u00e0","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Darnell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Torra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajkd.2003.08.002_BIB1","first-page":"309","article-title":"The genes coding for human pro alpha 1(IV) collagen and pro alpha 2(IV) collagen are both located at the end of the long arm of chromosome 13","volume":"42","author":"Boyd","year":"1988","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB2","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/0888-7543(92)90157-N","article-title":"Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37","volume":"13","author":"Mariyama","year":"1992","journal-title":"Genomics"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB3","first-page":"1024","article-title":"Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus","volume":"46","author":"Myers","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB4","doi-asserted-by":"crossref","first-page":"7520","DOI":"10.1016\/S0021-9258(17)37317-9","article-title":"Identification of a new collagen IV chain, alpha 6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5","volume":"269","author":"Oohashi","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB5","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1136\/bmj.1.3454.504","article-title":"Hereditary familial congenital haemorrhagic nephritis","volume":"1","author":"Alport","year":"1927","journal-title":"Br Med J"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB6","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1038\/ki.1996.459","article-title":"Alport syndrome","volume":"50","author":"Kashtan","year":"1996","journal-title":"Kidney Int"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB7","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1007\/s004670050804","article-title":"Alport syndromes","volume":"14","author":"Kashtan","year":"2000","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB8","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1111\/j.1523-1755.2000.00358.x","article-title":"Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation","volume":"58","author":"van der Loop","year":"2000","journal-title":"Kidney Int"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB9","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<183::AID-AJMG16>3.0.CO;2-H","article-title":"A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome","volume":"82","author":"Balarin","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB10","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1007\/PL00013431","article-title":"Sporadic case of X-chromosomal Alport syndrome in a consanguineous family","volume":"14","author":"Ermisch","year":"2000","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB11","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1136\/bmj.322.7292.942","article-title":"Haematuria in asymptomatic individuals","volume":"322","author":"Savige","year":"2001","journal-title":"BMJ"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB12","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1681\/ASN.V1351248","article-title":"Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria","volume":"13","author":"Badenas","year":"2002","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB13","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1046\/j.1523-1755.2003.00780.x","article-title":"Mutations in the COL4A4 gene in thin basement membrane disease","volume":"63","author":"Buzza","year":"2003","journal-title":"Kidney Int"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB14","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1172\/JCI118893","article-title":"Benign familial hematuria due to mutation of the type IV collagen alpha4 gene","volume":"98","author":"Lemmink","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB15","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1046\/j.1523-1755.2001.060002480.x","article-title":"COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome","volume":"60","author":"Buzza","year":"2001","journal-title":"Kidney Int"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB16","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1046\/j.1523-1755.2002.00379.x","article-title":"COL4A3\/COL4A4 mutations","volume":"61","author":"Longo","year":"2002","journal-title":"Kidney Int"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB17","series-title":"Molecular Pathology and Genetics of Alport Syndrome. Contrib Nephrol, vol 117","year":"1996"},{"issue":"3","key":"10.1016\/j.ajkd.2003.08.002_BIB18","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB19","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1093\/ndt\/14.3.627","article-title":"Autosomal recessive Alport syndrome","volume":"14","author":"Torra","year":"1999","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB20","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/ng0994-77","article-title":"Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome","volume":"8","author":"Mochizuki","year":"1994","journal-title":"Nat Genet"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB21","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/S0272-6386(97)90050-0","article-title":"Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport\u2019s syndrome","volume":"30","author":"Turco","year":"1997","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB22","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1681\/ASN.V12197","article-title":"Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome","volume":"12","author":"Heidet","year":"2001","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB23","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1086\/302106","article-title":"Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome","volume":"63","author":"Boye","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB24","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1046\/j.1523-1755.1999.00368.x","article-title":"Mutational analysis within the 3\u2032 region of the PKD1 gene","volume":"55","author":"Badenas","year":"1999","journal-title":"Kidney Int"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB25","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB26","doi-asserted-by":"crossref","first-page":"31142","DOI":"10.1074\/jbc.M201740200","article-title":"Crystal structure of NC1 domains. Structural basis for type IV collagen assembly in basement membranes","volume":"277","author":"Sundaramoorthy","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB27","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/1096-8628(20010115)98:2<148::AID-AJMG1024>3.0.CO;2-W","article-title":"Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP","volume":"98","author":"Barker","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB28","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/humu.1163","article-title":"Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome","volume":"18","author":"Hertz","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB29","first-page":"723A","article-title":"Intergenic region between the collagen genes COL4A5 and COL4A6 is probably not affected in Alport syndrome","volume":"6","author":"Lambrecht","year":"1995","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB30","doi-asserted-by":"crossref","first-page":"2291","DOI":"10.1681\/ASN.V9122291","article-title":"High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing","volume":"9","author":"Martin","year":"1998","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB31","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1159\/000013499","article-title":"Evidence for genetic heterogeneity in benign familial hematuria","volume":"19","author":"Piccini","year":"1999","journal-title":"Am J Nephrol"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB32","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.1093\/ndt\/16.10.2008","article-title":"Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia","volume":"16","author":"Ciccarese","year":"2001","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB33","first-page":"1016","article-title":"Renal prognosis in Alport\u2019s and related syndromes","volume":"4","author":"Pochet","year":"1989","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB34","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1159\/000166914","article-title":"Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults","volume":"5","author":"Dische","year":"1985","journal-title":"Am J Nephrol"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB35","doi-asserted-by":"crossref","first-page":"1596","DOI":"10.1038\/ki.1997.219","article-title":"Thin GBM nephropathy","volume":"51","author":"Nieuwhof","year":"1997","journal-title":"Kidney Int"},{"key":"10.1016\/j.ajkd.2003.08.002_BIB36","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1093\/hmg\/3.8.1269","article-title":"Mutations in the type IV collagen \u03b13 (COL4A3) gene in autosomal recessive Alport syndrome","volume":"3","author":"Lemmink","year":"1994","journal-title":"Hum Mol Genet"}],"container-title":["American Journal of Kidney Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638603010588?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638603010588?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T01:24:17Z","timestamp":1759454657000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0272638603010588"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,11]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2003,11]]}},"alternative-id":["S0272638603010588"],"URL":"https:\/\/doi.org\/10.1016\/j.ajkd.2003.08.002","relation":{},"ISSN":["0272-6386"],"issn-type":[{"value":"0272-6386","type":"print"}],"subject":[],"published":{"date-parts":[[2003,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Autosomal recessive Alport\u2019s syndrome and benign familial hematuria are collagen type IV diseases","name":"articletitle","label":"Article Title"},{"value":"American Journal of Kidney Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajkd.2003.08.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2003 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}