{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:55:53Z","timestamp":1790394953613,"version":"4.1.0"},"reference-count":0,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,1]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract.<\/jats:title>\n                    <jats:p>\n                      Mutations in either the\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      or the\n                      <jats:italic toggle=\"yes\">COL4A4<\/jats:italic>\n                      genes, encoding the \u03b13 and \u03b14 chains of type IV collagen, are responsible for the autosomal-recessive form of Alport syndrome, a progressive hematuric nephropathy characterized by glomerular basement membrane abnormalities. Reported here are the complete\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      exon-intron structure and a comprehensive screen for mutations of the 52\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      exons in 41 unrelated patients diagnosed as having autosomal Alport syndrome. This resulted in the identification of 21 mutations that are expected to be causative. Furthermore, it is shown that heterozygous\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      missense mutations, when symptomatic, can be associated with a broad range of phenotypes, from familial benign hematuria to the complete features of Alport syndrome nephropathy.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.v12197","type":"journal-article","created":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T22:26:10Z","timestamp":1620080770000},"page":"97-106","source":"Crossref","is-referenced-by-count":146,"title":["Structure of the Human Type IV Collagen Gene COL4A3 and Mutations in Autosomal Alport Syndrome"],"prefix":"10.1681","volume":"12","author":[{"given":"LAURENCE","family":"HEIDET","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CHRISTELLE","family":"ARRONDEL","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LIONEL","family":"FORESTIER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LOLA","family":"COHEN-SOLAL","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GERALDINE","family":"MOLLET","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BRUNO","family":"GUTIERREZ","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CHRISTOPHOROS","family":"STAVROU","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MARIE CLAIRE","family":"GUBLER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CORINNE","family":"ANTIGNAC","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-200101000-00012","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:23:02Z","timestamp":1786130582000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-200101000-00012"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2001]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.v12197","relation":{},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2001,1]]}}}