{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T14:25:55Z","timestamp":1768832755315,"version":"3.49.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,7]],"date-time":"2015-12-07T00:00:00Z","timestamp":1449446400000},"content-version":"vor","delay-in-days":3111,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2007,6]]},"DOI":"10.1038\/sj.ki.5002221","type":"journal-article","created":{"date-parts":[[2007,3,29]],"date-time":"2007-03-29T15:56:18Z","timestamp":1175183778000},"page":"1287-1295","source":"Crossref","is-referenced-by-count":60,"title":["Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria"],"prefix":"10.1016","volume":"71","author":[{"given":"M.","family":"\u0160lajpah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Gorin\u0161ek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Berginc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Vizjak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Ferluga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Hvala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Megli\u010d","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Jak\u0161a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Furlan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gregori\u010d","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0160","family":"Kaplan-Pavlov\u010di\u010d","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ravnik-Glava\u010d","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Glava\u010d","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/sj.ki.5002221_bb0010","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1001\/archinte.1973.00320080093013","article-title":"Familial benign essential hematuria","volume":"31","author":"Rogers","year":"1973","journal-title":"Arch Intern Med"},{"key":"10.1038\/sj.ki.5002221_bb0015","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1159\/000185384","article-title":"Familial thin basement membrane nephropathy in children with asymptomatic microhematuria","volume":"51","author":"Gauthier","year":"1989","journal-title":"Nephron"},{"key":"10.1038\/sj.ki.5002221_bb0020","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1097\/00005792-199909000-00005","article-title":"Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes","volume":"78","author":"Kashtan","year":"1999","journal-title":"Medicine"},{"key":"10.1038\/sj.ki.5002221_bb0025","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.2349482","article-title":"Identification of mutations in the COL4A5 gene in Alport syndrome","volume":"248","author":"Barker","year":"1990","journal-title":"Science"},{"key":"10.1038\/sj.ki.5002221_bb0030","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1093\/ndt\/17.7.1218","article-title":"Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling","volume":"17","author":"Gross","year":"2002","journal-title":"Nephrol Dial Transplant"},{"key":"10.1038\/sj.ki.5002221_bb0035","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/ng0994-77","article-title":"Identification of mutations in the alpha3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome","volume":"8","author":"Mochizuki","year":"1994","journal-title":"Nat Genet"},{"key":"10.1038\/sj.ki.5002221_bb0040","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1093\/ndt\/12.8.1595","article-title":"Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4)","volume":"12","author":"Jefferson","year":"1997","journal-title":"Nephrol Dial Transplant"},{"key":"10.1038\/sj.ki.5002221_bb0045","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1172\/JCI118893","article-title":"Benign familial hematuria due to mutation of the type IV collagen a4 gene","volume":"98","author":"Lemmink","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1038\/sj.ki.5002221_bb0050","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":"10.1038\/sj.ki.5002221_bb0055","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":"10.1038\/sj.ki.5002221_bb0060","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1046\/j.1523-1755.2002.00379.x","article-title":"COL4A3\/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome","volume":"61","author":"Longo","year":"2002","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002221_bb0065","first-page":"1192","article-title":"X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene","volume":"58","author":"Renieri","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.ki.5002221_bb0070","first-page":"1221","article-title":"Spectrum of mutations in the COL4A5 gene in X-linked Alport syndrome","volume":"59","author":"Knebelmann","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.ki.5002221_bb0075","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1038\/ki.1996.113","article-title":"The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons","volume":"49","author":"Kawai","year":"1996","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002221_bb0080","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z","article-title":"Detection of mutations in COL4A5 in patients with Alport syndrome","volume":"13","author":"Plant","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1038\/sj.ki.5002221_bb0085","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/s004670050025","article-title":"Mutational analysis of COL4A5 gene in Korean Alport syndrome","volume":"14","author":"Cheong","year":"2000","journal-title":"Pediatr Nephrol"},{"key":"10.1038\/sj.ki.5002221_bb0090","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":"10.1038\/sj.ki.5002221_bb0095","first-page":"1157","article-title":"A mutation causing Alport syndrome with tardive hearing loss is common in the Western United States","volume":"58","author":"Barker","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.ki.5002221_bb0100","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":"10.1038\/sj.ki.5002221_bb0105","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":"10.1038\/sj.ki.5002221_bb0110","first-page":"135","article-title":"Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain in associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR amplified lymphoblast cDNA fragments","volume":"51","author":"Knebelmann","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.ki.5002221_bb0115","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1006\/geno.1993.1351","article-title":"Identification of four novel mutations in COL4A5 gene of patients with Alport syndrome","volume":"17","author":"Lemmink","year":"1993","journal-title":"Genomics"},{"key":"10.1038\/sj.ki.5002221_bb0120","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","article-title":"X-linked Alport syndrome: natural history in 195 families and genotype\u2013phenotype correlations in males","volume":"11","author":"Jais","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/sj.ki.5002221_bb0125","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","article-title":"X-linked Alport syndrom: natural history and genotype\u2013phenotype correlations in girls and women belonging to 195 families: a \u2018European Community Alport Syndrome concerted Action\u2019 study","volume":"14","author":"Jais","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/sj.ki.5002221_bb0130","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1046\/j.1523-1755.2003.00234.x","article-title":"Thin basement membrane nephropathy","volume":"64","author":"Savige","year":"2003","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002221_bb0135","doi-asserted-by":"crossref","first-page":"2429","DOI":"10.1093\/ndt\/gfh435","article-title":"Collagen type IV (\u03b13-\u03b14) nephropathy: from isolated haematuria to renal failure","volume":"19","author":"Torra","year":"2004","journal-title":"Nephrol Dial Transplant"},{"key":"10.1038\/sj.ki.5002221_bb0140","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1086\/302106","article-title":"Determination of the genomic structure of the COLA4 gene and of novel mutations causing autosomal recessive Alport syndrome","volume":"63","author":"Boye","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.ki.5002221_bb0145","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 Nephrol"},{"key":"10.1038\/sj.ki.5002221_bb0150","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1111\/j.1523-1755.2004.00453.x","article-title":"COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN)","volume":"65","author":"Wang","year":"2004","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002221_bb0155","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/j.ajkd.2003.08.002","article-title":"Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases","volume":"42","author":"Tazon-Vega","year":"2003","journal-title":"Am J Kidney Dis"},{"key":"10.1038\/sj.ki.5002221_bb0160","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1046\/j.1523-1755.2003.00780.x","article-title":"Mutations in COL4A4 gene in thin basement membrane disease","volume":"63","author":"Buzza","year":"2003","journal-title":"Kideny Int"},{"key":"10.1038\/sj.ki.5002221_bb0165","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1007\/s004670050471","article-title":"Renal biopsy diagnosis in children presenting with haematuria","volume":"12","author":"Piqueras","year":"1998","journal-title":"Pediatr Nephrol"},{"key":"10.1038\/sj.ki.5002221_bb0170","first-page":"24","article-title":"Isolated hematuria in children","volume":"17","author":"Stapleton","year":"1984","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002221_bb0175","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1007\/BF00856642","article-title":"Asymptomatic isolated microhaematuria: natural history of 136 children","volume":"5","author":"Hisano","year":"1991","journal-title":"Pediatr Nephrol"},{"key":"10.1038\/sj.ki.5002221_bb0180","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1007\/s00439-002-0830-3","article-title":"Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome","volume":"111","author":"King","year":"2002","journal-title":"Hum Genet"},{"key":"10.1038\/sj.ki.5002221_bb0185","first-page":"1005","article-title":"Genetics of classic Alport syndrome","volume":"2","author":"Flinter","year":"1998","journal-title":"Lancet"},{"key":"10.1038\/sj.ki.5002221_bb0190","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1002\/elps.11501301137","article-title":"Native horizontal ultrathin polyacrylamide gel electrophoresis of proteins under basic and acidic conditions","volume":"13","author":"Heukeshoven","year":"1992","journal-title":"Electrophoresis"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815522965?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815522965?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,8,11]],"date-time":"2021-08-11T22:02:30Z","timestamp":1628719350000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253815522965"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6]]},"references-count":37,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["S0085253815522965"],"URL":"https:\/\/doi.org\/10.1038\/sj.ki.5002221","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2007,6]]}}}