{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T02:53:36Z","timestamp":1794020016117,"version":"4.8.0"},"reference-count":41,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1681\/asn.2012100985","type":"journal-article","created":{"date-parts":[[2013,9,20]],"date-time":"2013-09-20T00:32:35Z","timestamp":1379637155000},"page":"1945-1954","source":"Crossref","is-referenced-by-count":158,"title":["COL4A3\/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome"],"prefix":"10.1681","volume":"24","author":[{"given":"Helen","family":"Storey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy","family":"Savige","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Sivakumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Abbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances A.","family":"Flinter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-7-20230208","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":"BMJ"},{"key":"R2-7-20230208","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1016\/S0140-6736(88)90753-2","article-title":"Genetics of classic Alport\u2019s syndrome.","volume":"2","author":"Flinter","year":"1988","journal-title":"Lancet"},{"key":"R3-7-20230208","first-page":"203","article-title":"Hereditary nephropathy (Alport syndrome): Correlation of clinical data with glomerular basement membrane alterations.","volume":"13","author":"Rumpelt","year":"1980","journal-title":"Clin Nephrol"},{"key":"R4-7-20230208","first-page":"161","article-title":"A heredo-familial syndrome characterized by renal disease, inner ear deafness, and ocular changes.","volume":"47","author":"Sohar","year":"1954","journal-title":"Harefuah"},{"key":"R5-7-20230208","doi-asserted-by":"crossref","first-page":"198","DOI":"10.2215\/CJN.00200110","article-title":"The value of clinical criteria in identifying patients with X-linked Alport syndrome.","volume":"6","author":"Hanson","year":"2011","journal-title":"Clin J Am Soc Nephrol"},{"key":"R6-7-20230208","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1093\/hmg\/3.8.1269","article-title":"Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.","volume":"3","author":"Lemmink","year":"1994","journal-title":"Hum Mol Genet"},{"key":"R7-7-20230208","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":"R8-7-20230208","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":"R9-7-20230208","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1002\/humu.9065","article-title":"Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.","volume":"20","author":"Dagher","year":"2002","journal-title":"Hum Mutat"},{"key":"R10-7-20230208","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":"R11-7-20230208","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":"R12-7-20230208","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1093\/ndt\/gfg157","article-title":"Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome.","volume":"18","author":"Gross","year":"2003","journal-title":"Nephrol Dial Transplant"},{"key":"R13-7-20230208","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/j.ajkd.2003.08.002","article-title":"Autosomal recessive Alport\u2019s syndrome and benign familial hematuria are collagen type IV diseases.","volume":"42","author":"Taz\u00f3n Vega","year":"2003","journal-title":"Am J Kidney Dis"},{"key":"R14-7-20230208","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1002\/humu.9349","article-title":"Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.","volume":"26","author":"Nagel","year":"2005","journal-title":"Hum Mutat"},{"key":"R15-7-20230208","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1093\/ndt\/gfi312","article-title":"Autosomal recessive Alport syndrome: An in-depth clinical and molecular analysis of five families.","volume":"21","author":"Longo","year":"2006","journal-title":"Nephrol Dial Transplant"},{"key":"R16-7-20230208","doi-asserted-by":"crossref","first-page":"e25","DOI":"10.1053\/j.ajkd.2007.09.028","article-title":"Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.","volume":"51","author":"Cook","year":"2008","journal-title":"Am J Kidney Dis"},{"key":"R17-7-20230208","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1089\/gtmb.2008.0096","article-title":"Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.","volume":"13","author":"Ellard","year":"2009","journal-title":"Genet Test Mol Biomarkers"},{"key":"R18-7-20230208","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1007\/s00467-006-0393-y","article-title":"Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.","volume":"22","author":"Rana","year":"2007","journal-title":"Pediatr Nephrol"},{"key":"R19-7-20230208","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1097\/ICO.0b013e31818f9706","article-title":"Novel corneal phenotype in a patient with alport syndrome.","volume":"28","author":"Bower","year":"2009","journal-title":"Cornea"},{"key":"R20-7-20230208","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":"R21-7-20230208","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1038\/ki.2011.452","article-title":"Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations.","volume":"81","author":"Temme","year":"2012","journal-title":"Kidney Int"},{"key":"R22-7-20230208","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1681\/ASN.2012020148","article-title":"Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.","volume":"24","author":"Savige","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"R23-7-20230208","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1038\/ki.1995.163","article-title":"Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution.","volume":"47","author":"Gubler","year":"1995","journal-title":"Kidney Int"},{"key":"R24-7-20230208","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":"R25-7-20230208","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- phenotype correlations in males.","volume":"11","author":"Jais","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"R26-7-20230208","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1159\/000059891","article-title":"X-linked Alport syndrome with normal distribution of collagen IV alpha chains in epidermal basement membrane.","volume":"122","author":"Naito","year":"1997","journal-title":"Contrib Nephrol"},{"key":"R27-7-20230208","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":"R28-7-20230208","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s004390050429","article-title":"Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.","volume":"99","author":"Barker","year":"1997","journal-title":"Hum Genet"},{"key":"R29-7-20230208","doi-asserted-by":"crossref","first-page":"2030","DOI":"10.1111\/j.1523-1755.2004.00622.x","article-title":"A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.","volume":"65","author":"Arrondel","year":"2004","journal-title":"Kidney Int"},{"key":"R30-7-20230208","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1089\/gte.2007.0110","article-title":"COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.","volume":"12","author":"Voskarides","year":"2008","journal-title":"Genet Test"},{"key":"R31-7-20230208","first-page":"1221","article-title":"Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.","volume":"59","author":"Knebelmann","year":"1996","journal-title":"Am J Hum Genet"},{"key":"R32-7-20230208","doi-asserted-by":"crossref","first-page":"41874","DOI":"10.1074\/jbc.M110.149534","article-title":"Identification of the NC1 domain of \u03b13 chain as critical for \u03b13\u03b14\u03b15 type IV collagen network assembly.","volume":"285","author":"LeBleu","year":"2010","journal-title":"J Biol Chem"},{"key":"R33-7-20230208","doi-asserted-by":"crossref","first-page":"7681","DOI":"10.1016\/S0021-9258(17)39662-X","article-title":"cDNA clones coding for the pro-alpha1(IV) chain of human type IV procollagen reveal an unusual homology of amino acid sequences in two halves of the carboxyl-terminal domain.","volume":"260","author":"Pihlajaniemi","year":"1985","journal-title":"J Biol Chem"},{"key":"R34-7-20230208","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1111\/j.1432-1033.1988.tb14321.x","article-title":"The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen.","volume":"176","author":"Siebold","year":"1988","journal-title":"Eur J Biochem"},{"key":"R35-7-20230208","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1111\/j.1432-1033.1989.tb14673.x","article-title":"Structure and biological activity of basement membrane proteins.","volume":"180","author":"Timpl","year":"1989","journal-title":"Eur J Biochem"},{"key":"R36-7-20230208","doi-asserted-by":"crossref","first-page":"30716","DOI":"10.1074\/jbc.M004569200","article-title":"Type IV collagen of the glomerular basement membrane. Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains.","volume":"275","author":"Boutaud","year":"2000","journal-title":"J Biol Chem"},{"key":"R37-7-20230208","doi-asserted-by":"crossref","first-page":"38117","DOI":"10.1074\/jbc.R600025200","article-title":"Molecular recognition in the assembly of collagens: Terminal noncollagenous domains are key recognition modules in the formation of triple helical protomers.","volume":"281","author":"Khoshnoodi","year":"2006","journal-title":"J Biol Chem"},{"key":"R38-7-20230208","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","article-title":"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.","volume":"14","author":"Jais","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"R39-7-20230208","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/humu.20091","article-title":"Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.","volume":"24","author":"Persikov","year":"2004","journal-title":"Hum Mutat"},{"key":"R41-7-20230208","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: A discussion.","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"R43-7-20230208","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v.2.0: The next generation in gene variant databases.","volume":"32","author":"Fokkema","year":"2011","journal-title":"Hum Mutat"}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-201312000-00007","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:23:13Z","timestamp":1786130593000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-201312000-00007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":41,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.2012100985","relation":{},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}