{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T09:30:36Z","timestamp":1759483836353},"reference-count":32,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[1995,1,1]],"date-time":"1995-01-01T00:00:00Z","timestamp":788918400000},"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":7645,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[1995,1]]},"DOI":"10.1038\/ki.1995.43","type":"journal-article","created":{"date-parts":[[2007,5,21]],"date-time":"2007-05-21T16:08:56Z","timestamp":1179763736000},"page":"327-332","source":"Crossref","is-referenced-by-count":10,"title":["A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome"],"prefix":"10.1016","volume":"47","author":[{"given":"Jens Michael","family":"Hertz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niina","family":"Heiskari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uffe Birk","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl","family":"Tryggvason","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/ki.1995.43_bb0010","series-title":"Diseases of the Kidney","first-page":"617","article-title":"Alport Syndrome","author":"Atkin","year":"1988"},{"key":"10.1038\/ki.1995.43_bb0015","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/ki.1985.63","article-title":"Genetic heterogeneity of Alport syndrome","volume":"27","author":"Feingold","year":"1985","journal-title":"Kidney Int"},{"key":"10.1038\/ki.1995.43_bb0020","first-page":"940","article-title":"Genetic heterogeneity among kindreds with Alport syndrome","volume":"38","author":"Hasstedt","year":"1986","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.1995.43_bb0025","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1016\/S0140-6736(88)90753-2","article-title":"Genetics of classic Alport's syndrome","volume":"i","author":"Flinter","year":"1988","journal-title":"Lancet"},{"key":"10.1038\/ki.1995.43_bb0030","first-page":"249","article-title":"Mapping of Alport syndrome to the long arm of the X chromosome","volume":"42","author":"Atkin","year":"1988","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.1995.43_bb0035","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1038\/ki.1988.210","article-title":"Localization of the gene for X-linked Alport's syndrome","volume":"34","author":"Brunner","year":"1988","journal-title":"Kidney Int"},{"key":"10.1038\/ki.1995.43_bb0040","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/BF00206064","article-title":"Multipoint linkage analysis in X-linked Alport syndrome","volume":"88","author":"Hertz","year":"1991","journal-title":"Hum Genet"},{"key":"10.1038\/ki.1995.43_bb0045","first-page":"213","article-title":"Alport's syndrome. Emphazing electron microscopic studies of the glomerulus","volume":"69","author":"Spear","year":"1972","journal-title":"Am J Pathol"},{"key":"10.1038\/ki.1995.43_bb0050","first-page":"473","article-title":"Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome)","volume":"27","author":"Hinglais","year":"1972","journal-title":"Lab Invest"},{"key":"10.1038\/ki.1995.43_bb0055","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1038\/ki.1982.72","article-title":"Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis","volume":"21","author":"Mccoy","year":"1982","journal-title":"Kidney Int"},{"key":"10.1038\/ki.1995.43_bb0060","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1172\/JCI112658","article-title":"Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis","volume":"78","author":"Kashtan","year":"1986","journal-title":"J Clin Invest"},{"key":"10.1038\/ki.1995.43_bb0065","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1073\/pnas.87.4.1606","article-title":"Identification of a distinct type IV collagen \u03b1 chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome","volume":"87","author":"Hostikka","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/ki.1995.43_bb0070","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/ki.1993.8","article-title":"Molecular genetics of Alport syndrome","volume":"43","author":"Tryggvason","year":"1993","journal-title":"Kidney Int"},{"key":"10.1038\/ki.1995.43_bb0075","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1093\/hmg\/2.5.595","article-title":"An 8bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient","volume":"2","author":"Boye","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1038\/ki.1995.43_bb0080","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/BF01247348","article-title":"Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome","volume":"92","author":"Renieri","year":"1993","journal-title":"Hum Genet"},{"key":"10.1038\/ki.1995.43_bb0085","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1038\/ki.1993.353","article-title":"Identification of a single base insertion in the COL4A5 gene in Alport syndrome","volume":"44","author":"Nakazato","year":"1993","journal-title":"Kidney Int"},{"key":"10.1038\/ki.1995.43_bb0090","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1038\/ki.1993.384","article-title":"Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain","volume":"44","author":"Guo","year":"1993","journal-title":"Kidney Int"},{"key":"10.1038\/ki.1995.43_bb0095","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1093\/hmg\/3.1.201","article-title":"Single base pair deletions in exon 39 and 42 of the COL4A5 gene in Alport syndrome","volume":"3","author":"Renieri","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1038\/ki.1995.43_bb0100","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1093\/hmg\/3.2.317","article-title":"Aberrant splicing of the COL4A5 gene in patients with Alport syndrome","volume":"3","author":"Lemmink","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1038\/ki.1995.43_bb0105","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1172\/JCI117073","article-title":"Deletions in the COL4A5 collagen gene in X-linked Alport Syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression","volume":"93","author":"Antignac","year":"1994","journal-title":"J Clin Invest"},{"key":"10.1038\/ki.1995.43_bb0110","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1126\/science.8356449","article-title":"Deletion of the Paired \u03b15(IV) and \u03b16(IV) collagen genes in inherited smooth muscle tumors","volume":"261","author":"Zhou","year":"1993","journal-title":"Science"},{"key":"10.1038\/ki.1995.43_bb0115","first-page":"1291","article-title":"Mutation in the \u03b15(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: Detected by denaturing gradient gel electrophoresis of a PCR product","volume":"50","author":"Zhou","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.1995.43_bb0120","doi-asserted-by":"crossref","first-page":"12475","DOI":"10.1016\/S0021-9258(18)42301-0","article-title":"Complete amino acid sequence of the human \u03b15(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","volume":"267","author":"Zhou","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1038\/ki.1995.43_bb0125","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1038\/ki.1993.103","article-title":"Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome","volume":"43","author":"Zhou","year":"1993","journal-title":"Kidney Int"},{"key":"10.1038\/ki.1995.43_bb0130","doi-asserted-by":"crossref","first-page":"6608","DOI":"10.1016\/S0021-9258(17)37416-1","article-title":"Structure of the human type IV collagen COL4A5 gene","volume":"269","author":"Zhou","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1038\/ki.1995.43_bb0135","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0888-7543(91)90214-Y","article-title":"Characterization of the 3\u2032 half of the human type IV collagen \u03b15 gene that is affected in the Alport syndrome","volume":"9","author":"Zhou","year":"1991","journal-title":"Genomics"},{"key":"10.1038\/ki.1995.43_bb0140","doi-asserted-by":"crossref","first-page":"26033","DOI":"10.1016\/S0021-9258(19)74270-7","article-title":"Type IV collagen: Structure, gene organization, and role in human diseases","volume":"268","author":"Hudson","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1038\/ki.1995.43_bb0145","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1006\/geno.1993.1351","article-title":"Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome","volume":"17","author":"Lemmink","year":"1993","journal-title":"Genomics"},{"key":"10.1038\/ki.1995.43_bb0150","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1111\/j.1399-0004.1979.tb01002.x","article-title":"Healthy female carriers of a gene for the Alport syndrome: Importance for genetic counselling","volume":"16","author":"Tishler","year":"1979","journal-title":"Clin Genet"},{"key":"10.1038\/ki.1995.43_bb0155","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1093\/nar\/20.4.929-a","article-title":"Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22","volume":"20","author":"Barker","year":"1992","journal-title":"Nucl Acid Res"},{"key":"10.1038\/ki.1995.43_bb0160","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/S0140-6736(86)92557-2","article-title":"Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe","volume":"2","author":"Reeders","year":"1986","journal-title":"Lancet"},{"key":"10.1038\/ki.1995.43_bb0165","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/0888-7543(92)90215-E","article-title":"Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers","volume":"13","author":"Somlo","year":"1992","journal-title":"Genomics"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815588017?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815588017?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T22:51:34Z","timestamp":1635547894000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253815588017"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,1]]}},"alternative-id":["S0085253815588017"],"URL":"https:\/\/doi.org\/10.1038\/ki.1995.43","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[1995,1]]}}}