{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T16:57:00Z","timestamp":1792601820010,"version":"4.5.0"},"reference-count":26,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"4960","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1990,6,8]]},"abstract":"<jats:p>X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by progressive loss of hearing. Ultrastructural defects in glomerular basement membranes (GBM) of Alport syndrome patients implicate an altered structural protein as the cause of nephritis. The product of COL4A5, the \u03b15(IV) collagen chain, is a specific component of GBM within the kidney, and the gene maps to the same X chromosomal region as does Alport syndrome. Three structural aberrations were found in COL4A5, an intragenic deletion, a Pst I site variant, and an uncharacterized abnormality, which appear to cause nephritis and deafness, with allele-specific severity, in three Alport syndrome kindreds in Utah.<\/jats:p>","DOI":"10.1126\/science.2349482","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T18:10:14Z","timestamp":1160071814000},"page":"1224-1227","source":"Crossref","is-referenced-by-count":667,"title":["Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome"],"prefix":"10.1126","volume":"248","author":[{"given":"David F.","family":"Barker","sequence":"first","affiliation":[{"name":"Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, UT 84132."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirkka Liisa","family":"Hostikka","sequence":"additional","affiliation":[{"name":"Biocenter and Department of Biochemistry, University of Oulu, SF-90570 Oulu, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhou","sequence":"additional","affiliation":[{"name":"Biocenter and Department of Biochemistry, University of Oulu, SF-90570 Oulu, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise T.","family":"Chow","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold R.","family":"Oliphant","sequence":"additional","affiliation":[{"name":"Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, UT 84132."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven C.","family":"Gerken","sequence":"additional","affiliation":[{"name":"Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, UT 84132."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin C.","family":"Gregory","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark H.","family":"Skolnick","sequence":"additional","affiliation":[{"name":"Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, UT 84132."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curtis L.","family":"Atkin","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, UT 84132."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Tryggvason","sequence":"additional","affiliation":[{"name":"Biocenter and Department of Biochemistry, University of Oulu, SF-90570 Oulu, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","first-page":"249","volume":"42","year":"1988","unstructured":"ATKIN, C.L., MAPPING OF ALPORT SYNDROME TO THE LONG ARM OF THE X-CHROMOSOME, AMERICAN JOURNAL OF HUMAN GENETICS 42: 249 (1988).","journal-title":"AMERICAN JOURNAL OF HUMAN GENETICS"},{"key":"e_1_2_1_2_1","first-page":"617","year":"1988","unstructured":"ATKIN, C.L., DIS KIDNEY: 617 (1988).","journal-title":"DIS KIDNEY"},{"key":"e_1_2_1_3_1","first-page":"1159","volume":"36","year":"1984","unstructured":"BARKER, D, A LOCUS ON CHROMOSOME 11P WITH MULTIPLE RESTRICTION SITE POLYMORPHISMS, AMERICAN JOURNAL OF HUMAN GENETICS 36: 1159 (1984).","journal-title":"AMERICAN JOURNAL OF HUMAN GENETICS"},{"key":"e_1_2_1_4_1","unstructured":"BARKER D.F. unpublished data."},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF00282074","volume":"74","year":"1986","unstructured":"BOYD, C.D., THE SINGLE COPY GENE CODING FOR HUMAN ALPHA-1(IV) PROCOLLAGEN IS LOCATED AT THE TERMINAL END OF THE LONG ARM OF CHROMOSOME-13, HUMAN GENETICS 74: 121 (1986).","journal-title":"HUMAN GENETICS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1038\/ki.1988.210","volume":"34","year":"1988","unstructured":"BRUNNER, H, LOCALIZATION OF THE GENE FOR X-LINKED ALPORTS-SYNDROME, KIDNEY INTERNATIONAL 34: 507 (1988).","journal-title":"KIDNEY INTERNATIONAL"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1038\/ki.1989.110","volume":"35","year":"1989","unstructured":"BUTKOWSKI, R.J., BASEMENT-MEMBRANE COLLAGEN IN THE KIDNEY - 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