{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T19:12:06Z","timestamp":1694632326268},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2008,11]]},"DOI":"10.1007\/s00467-008-0878-y","type":"journal-article","created":{"date-parts":[[2008,6,26]],"date-time":"2008-06-26T14:36:04Z","timestamp":1214490964000},"page":"2085-2090","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients"],"prefix":"10.1007","volume":"23","author":[{"given":"Kandai","family":"Nozu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafal","family":"Przybyslaw Krol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasufumi","family":"Ohtsuka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koichi","family":"Nakanishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norishige","family":"Yoshikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshimi","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Kaito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoko","family":"Kanda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuya","family":"Hashimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuhei","family":"Hamasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,11,1]]},"reference":[{"key":"878_CR1","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1097\/00005792-199909000-00005","volume":"78","author":"CE Kashtan","year":"1999","unstructured":"Kashtan CE (1999) Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore) 78:338\u2013360","journal-title":"Medicine (Baltimore)"},{"key":"878_CR2","doi-asserted-by":"publisher","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","volume":"14","author":"JP Jais","year":"2003","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2003) X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a \u201cEuropean Community Alport Syndrome Concerted Action\u201d study. J Am Soc Nephrol 14:2603\u20132610","journal-title":"J Am Soc Nephrol"},{"key":"878_CR3","doi-asserted-by":"publisher","first-page":"e1","DOI":"10.1053\/j.ajkd.2007.05.004","volume":"50","author":"B Tazon-Vega","year":"2007","unstructured":"Tazon-Vega B, Ars E, Burset M, Santin S, Ruiz P, Fernandez-Llama P, Ballarin J, Torra R (2007) Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples. Am J Kidney Dis 50:e1\u2013e14","journal-title":"Am J Kidney Dis"},{"key":"878_CR4","doi-asserted-by":"publisher","first-page":"1287","DOI":"10.1038\/sj.ki.5002221","volume":"71","author":"M Slajpah","year":"2007","unstructured":"Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D (2007) Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int 71:1287\u20131295","journal-title":"Kidney Int"},{"key":"878_CR5","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1002\/humu.9453","volume":"27","author":"K King","year":"2006","unstructured":"King K, Flinter FA, Green PM (2006) A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. Hum Mutat 27:1061","journal-title":"Hum Mutat"},{"key":"878_CR6","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1002\/humu.9349","volume":"26","author":"M Nagel","year":"2005","unstructured":"Nagel M, Nagorka S, Gross O (2005) Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. Hum Mutat 26:60","journal-title":"Hum Mutat"},{"key":"878_CR7","doi-asserted-by":"publisher","first-page":"1268","DOI":"10.1111\/j.1523-1755.2005.00204.x","volume":"67","author":"F Wang","year":"2005","unstructured":"Wang F, Wang Y, Ding J, Yang J (2005) Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts. Kidney Int 67:1268\u20131274","journal-title":"Kidney Int"},{"key":"878_CR8","doi-asserted-by":"publisher","first-page":"1123","DOI":"10.1093\/ndt\/gfh099","volume":"19","author":"X Pan","year":"2004","unstructured":"Pan X, Yan J, Ren H, Zhang W, Shi H, Yu H, Wang C, Hao C, Chen X, Chen N (2004) Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome. Nephrol Dial Transplant 19:1123\u20131128","journal-title":"Nephrol Dial Transplant"},{"key":"878_CR9","doi-asserted-by":"publisher","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":"878_CR10","doi-asserted-by":"publisher","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":"878_CR11","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1007\/s004670050025","volume":"14","author":"HI Cheong","year":"2000","unstructured":"Cheong HI, Park HW, Ha IS, Choi Y (2000) Mutational analysis of COL4A5 gene in Korean Alport syndrome. Pediatr Nephrol 14:117\u2013121","journal-title":"Pediatr Nephrol"},{"key":"878_CR12","first-page":"579","volume":"15","author":"P Martin","year":"2000","unstructured":"Martin P, Heiskari N, Pajari H, Gronhagen-Riska C, Kaariainen H, Koskimies O, Tryggvason K (2000) Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. Hum Mutat 15:579","journal-title":"Hum Mutat"},{"key":"878_CR13","doi-asserted-by":"publisher","first-page":"854","DOI":"10.1016\/S0272-6386(99)70042-9","volume":"34","author":"Y Inoue","year":"1999","unstructured":"Inoue Y, Nishio H, Shirakawa T, Nakanishi K, Nakamura H, Sumino K, Nishiyama K, Iijima K, Yoshikawa N (1999) Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing. Am J Kidney Dis 34:854\u2013862","journal-title":"Am J Kidney Dis"},{"key":"878_CR14","doi-asserted-by":"publisher","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":"878_CR15","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":"878_CR16","first-page":"1221","volume":"59","author":"B Knebelmann","year":"1996","unstructured":"Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschenes G, Grunfeld JP, Broyer M, Gubler MC, Antignac C (1996) Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am J Hum Genet 59:1221\u20131232","journal-title":"Am J Hum Genet"},{"key":"878_CR17","first-page":"1192","volume":"58","author":"A Renieri","year":"1996","unstructured":"Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M (1996) X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet 58:1192\u20131204","journal-title":"Am J Hum Genet"},{"key":"878_CR18","doi-asserted-by":"publisher","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":"878_CR19","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1203\/PDR.0b013e318123fb90","volume":"62","author":"K Nozu","year":"2007","unstructured":"Nozu K, Fu XJ, Nakanishi K, Yoshikawa N, Kaito H, Kanda K, Krol RP, Miyashita R, Kamitsuji H, Kanda S, Hayashi Y, Satomura K, Shimizu N, Iijima K, Matsuo M (2007) Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR. Pediatr Res 62:364\u2013369","journal-title":"Pediatr Res"},{"key":"878_CR20","doi-asserted-by":"publisher","first-page":"1218","DOI":"10.1093\/ndt\/17.7.1218","volume":"17","author":"O Gross","year":"2002","unstructured":"Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M (2002) Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 17:1218\u20131227","journal-title":"Nephrol Dial Transplant"},{"key":"878_CR21","doi-asserted-by":"publisher","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, Grunfeld JP, Broyer M, Gubler MC (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":"878_CR22","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","volume":"11","author":"JP Jais","year":"2000","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, Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2000) X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11:649\u2013657","journal-title":"J Am Soc Nephrol"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-0878-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-008-0878-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-0878-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-0878-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,12]],"date-time":"2021-09-12T17:25:10Z","timestamp":1631467510000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-008-0878-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11]]},"references-count":22,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2008,11]]}},"alternative-id":["878"],"URL":"https:\/\/doi.org\/10.1007\/s00467-008-0878-y","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11]]},"assertion":[{"value":"29 February 2008","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 April 2008","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 April 2008","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 November 2008","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}