{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T23:52:10Z","timestamp":1774309930212,"version":"3.50.1"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2005,8,17]],"date-time":"2005-08-17T00:00:00Z","timestamp":1124236800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2005,11]]},"DOI":"10.1007\/s00439-005-0013-0","type":"journal-article","created":{"date-parts":[[2005,8,16]],"date-time":"2005-08-16T09:30:13Z","timestamp":1124184613000},"page":"23-28","source":"Crossref","is-referenced-by-count":9,"title":["Alport syndrome caused by inversion of a 21\u00a0Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene"],"prefix":"10.1007","volume":"118","author":[{"given":"Jens Michael","family":"Hertz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulf","family":"Persson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inger","family":"Juncker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e5rten","family":"Segelmark","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2005,8,17]]},"reference":[{"key":"13_CR1","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1172\/JCI117073","volume":"93","author":"C Antignac","year":"1994","unstructured":"Antignac C, Knebelmann B, Drouot L, Gros F, Deschenes G, Hors-Cayla MC, Zhou J, Tryggvason K, Gr\u00fcnfeld J-P, Broyer M (1994) Deletions in the COL4A5 collagen gene in X-linked Alport Syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. J Clin Invest 93:1195\u20131207","journal-title":"J Clin Invest"},{"key":"13_CR2","doi-asserted-by":"crossref","first-page":"2030","DOI":"10.1111\/j.1523-1755.2004.00622.x","volume":"65","author":"C Arrondel","year":"2004","unstructured":"Arrondel C, Deschenes G, Le Meur Y, Viau A, Cordonnier C, Fournier A, Amadeo S, Gubler MC, Antignac C, Heidet L (2004) A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia. Kidney Int 65:2030\u20132040","journal-title":"Kidney Int"},{"key":"13_CR3","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.2349482","volume":"248","author":"DF Barker","year":"1990","unstructured":"Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224\u20131227","journal-title":"Science"},{"key":"13_CR4","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/1096-8628(20010115)98:2<148::AID-AJMG1024>3.0.CO;2-W","volume":"98","author":"DF Barker","year":"2001","unstructured":"Barker DF, Denison JC, Atkin CL, Gregory MC (2001) Efficient detection of alport syndrome COL4a5 mutations with multiplex genomic PCR-SSCP. Am J Med Genet 98:148\u2013160","journal-title":"Am J Med Genet"},{"key":"13_CR5","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/0888-7543(91)90040-L","volume":"11","author":"E Boye","year":"1991","unstructured":"Boye E, Vetrie D, Flinter F, Buckle B, Pihlajaniemi T, Hamalainen E-R, Myers JC, Bobrow M, Harris A (1991) Major rearrangements in the a5(IV) collagen gene in three patients with Alport Syndrome. Genomics 11:1125\u20131132","journal-title":"Genomics"},{"key":"13_CR6","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","volume":"15","author":"JT den Dunnen","year":"2000","unstructured":"den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7\u201312","journal-title":"Hum Mutat"},{"key":"13_CR7","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s004390100505","volume":"109","author":"JT den Dunnen","year":"2001","unstructured":"den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121\u2013124","journal-title":"Hum Genet"},{"key":"13_CR8","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1681\/ASN.V52161","volume":"5","author":"J Ding","year":"1994","unstructured":"Ding J, Zhou J, Tryggvason K, Kashtan CE (1994) COL4A5 Deletions in three patients with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. J Am Soc Nephrol 5:161\u2013168","journal-title":"J Am Soc Nephrol"},{"key":"13_CR9","doi-asserted-by":"crossref","first-page":"2903","DOI":"10.1093\/nar\/20.11.2903","volume":"20","author":"P Fu","year":"1992","unstructured":"Fu P, Evans B (1992) A novel PCR method for amplifying exons (or genes) over intragenic (or intergenic) regions in the genome. Nucleic Acids Res 20:2903","journal-title":"Nucleic Acids Res"},{"key":"13_CR10","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/humu.1163","volume":"18","author":"JM Hertz","year":"2001","unstructured":"Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N (2001) Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. Hum Mutat 18:141\u2013148","journal-title":"Hum Mutat"},{"key":"13_CR11","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1073\/pnas.87.4.1606","volume":"87","author":"SL Hostikka","year":"1990","unstructured":"Hostikka SL, Eddy RL, Byers MG, H\u00f6yhty\u00e4 M, Shows TB, Tryggvason K (1990) Identification of a distinct type IV collagen a chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Natl Acad Sci 87:1606\u20131610","journal-title":"Proc Natl Acad Sci"},{"key":"13_CR12","doi-asserted-by":"crossref","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schr\u00f6der C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets HJM, Gubler MC (1999) X-linked Alport syndrome. Natural history in 195 families and genotype-phenotype correlations. New Engl J Med","DOI":"10.1681\/ASN.V114649"},{"key":"13_CR13","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1038\/ki.1996.113","volume":"49","author":"S Kawai","year":"1996","unstructured":"Kawai S, Nomura S, Harano T, Harano K, Fukushima T, Osawa G (1996) The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network. Kidney Int 49:814\u2013822","journal-title":"Kidney Int"},{"key":"13_CR14","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1007\/s00439-002-0830-3","volume":"111","author":"K King","year":"2002","unstructured":"King K, Flinter FA, Nihalani V, Green PM (2002) Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome. Hum Genet 111:548\u2013554","journal-title":"Hum Genet"},{"key":"13_CR15","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng1193-236","volume":"5","author":"D Lakich","year":"1993","unstructured":"Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J (1993) Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 5:236\u2013241","journal-title":"Nat Genet"},{"key":"13_CR16","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#","volume":"9","author":"HH Lemmink","year":"1997","unstructured":"Lemmink HH, Schr\u00f6der CH, Monnens LAH, Smeets HJM (1997) The Clinical spectrum of Type IV collagen mutations. Hum Mutat 9:477\u2013499","journal-title":"Hum Mutat"},{"key":"13_CR17","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/s004670000462","volume":"16","author":"PH Martin","year":"2001","unstructured":"Martin PH, Tryggvason K (2001) Two novel alternatively spliced 9-bp exons in the COL4A5 gene. Pediatr Nephrol 16:41\u201344","journal-title":"Pediatr Nephrol"},{"key":"13_CR18","doi-asserted-by":"crossref","first-page":"2291","DOI":"10.1681\/ASN.V9122291","volume":"9","author":"P Martin","year":"1998","unstructured":"Martin P, Heiskari N, Zhou J, Leinonen A, Tumelius T, Hertz JM, Barker D, Gregory M, Atkin C, Styrkarsdottir U, Neumann H, Springate J, Shows T, Pettersson E, Tryggvason K (1998) High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. J Am Soc Nephrol 9:2291\u20132301","journal-title":"J Am Soc Nephrol"},{"key":"13_CR19","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1038\/ki.1992.425","volume":"42","author":"K-O Netzer","year":"1992","unstructured":"Netzer K-O, Renders L, Zhou J, Pullig O, Tryggvason K, Weber M (1992) Deletions of the COL4A5 gene in patients with Alport syndrome. Kidney Int 42:1336\u20131344","journal-title":"Kidney Int"},{"key":"13_CR20","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1093\/genetics\/120.3.621","volume":"120","author":"H Ochman","year":"1988","unstructured":"Ochman H, Gerber AS, Hartl DL (1988) Genetic applications of an inverse polymerase chain reaction. Genetics 120:621\u2013623","journal-title":"Genetics"},{"key":"13_CR21","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z","volume":"13","author":"KE Plant","year":"1999","unstructured":"Plant KE, Green PM, Vetrie D, Flinter FA (1999) Detection of mutations in COL4A5 in patients with Alport syndrome. Hum Mutat 13:124\u2013132","journal-title":"Hum Mutat"},{"key":"13_CR22","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1007\/BF00207059","volume":"89","author":"A Renieri","year":"1992","unstructured":"Renieri A, Seri M, Myers JC, Pihlajaniemi T, Sessa A, Rizzoni G, De Marchi M (1992) Alport syndrome caused by a 5\u2032 deletion within the COL4A5 gene. Hum Genet 89:120\u2013121","journal-title":"Hum Genet"},{"key":"13_CR23","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1002\/ajmg.1320590320","volume":"59","author":"A Renieri","year":"1995","unstructured":"Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M (1995) Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. Am J Med Genet 59:380\u2013385","journal-title":"Am J Med Genet"},{"key":"13_CR24","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1681\/ASN.V491649","volume":"4","author":"A Saito","year":"1994","unstructured":"Saito A, Sakatsume M, Yamazaki H, Ogata F, Hirasawa Y, Arakawa M (1994) A deletion mutation in the 3\u2032 end of the a5(IV) collagen gene in juvenile-onset\u00a0alport syndrome. J Am Soc Nephrol 4:1649\u20131653","journal-title":"J Am Soc Nephrol"},{"key":"13_CR25","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ki.1992.264","volume":"42","author":"HJM Smeets","year":"1992","unstructured":"Smeets HJM, Melenhorst JJ, Lemmink HH, Schr\u00f6der CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers H-H, Jansweijer MCE, Monnens LAH, Brunner H, van Oost BA (1992) Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. Kidney Int 42:83\u201388","journal-title":"Kidney Int"},{"key":"13_CR26","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1093\/nar\/16.16.8186","volume":"16","author":"T Triglia","year":"1988","unstructured":"Triglia T, Peterson MG, Kemp DJ (1988) A procedure for in\u00a0vitro amplification of DNA segments that lie outside the boundaries of known sequences. Nucleic Acids Res 16:81\u201386","journal-title":"Nucleic Acids Res"},{"key":"13_CR27","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1016\/S0888-7543(05)80161-2","volume":"14","author":"D Vetrie","year":"1992","unstructured":"Vetrie D, Boye E, Flinter F, Bobrow M, Harris A (1992) DNA rearrangements in the a5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulsed-field gel electrophoresis. Genomics 14:624\u2013633","journal-title":"Genomics"},{"key":"13_CR28","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/em.10040","volume":"39","author":"M Williams","year":"2002","unstructured":"Williams M, Rainville IR, Nicklas JA (2002) Use of inverse PCR to amplify and sequence breakpoints of HPRT deletion and translocation mutations. Environ Mol Mutagen 39:22\u201332","journal-title":"Environ Mol Mutagen"},{"key":"13_CR29","doi-asserted-by":"crossref","first-page":"12475","DOI":"10.1016\/S0021-9258(18)42301-0","volume":"267","author":"J Zhou","year":"1992","unstructured":"Zhou J, Hertz JM, Leinonen A, Tryggvason K (1992a) Complete amino acid sequence of the human a5(IV) Collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. J Biol Chem 267:12475\u201312481","journal-title":"J Biol Chem"},{"key":"13_CR30","first-page":"1291","volume":"50","author":"J Zhou","year":"1992","unstructured":"Zhou J, Hertz JM, Tryggvason K (1992b) Mutation in the a5(IV) collagen chain in juvenile-onset\u00a0alport syndrome without hearing loss or ocular lesions: detected by denaturing gradient gel electrophoresis of a PCR product. Am J Hum Genet 50:1291\u20131300","journal-title":"Am J Hum Genet"},{"key":"13_CR31","doi-asserted-by":"crossref","first-page":"6608","DOI":"10.1016\/S0021-9258(17)37416-1","volume":"269","author":"J Zhou","year":"1994","unstructured":"Zhou J, Leinonen A, Tryggvason K (1994) Structure of the human type IV collagen COL4A5 Gene. J Biol Chem 269:6608\u20136614","journal-title":"J Biol Chem"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-005-0013-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-005-0013-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-005-0013-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T21:02:32Z","timestamp":1626382952000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-005-0013-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,8,17]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["13"],"URL":"https:\/\/doi.org\/10.1007\/s00439-005-0013-0","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,8,17]]}}}