{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:37:31Z","timestamp":1770903451399,"version":"3.50.1"},"reference-count":14,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,2]]},"abstract":"<jats:p>This study reports the molecular characterisation of the bilirubin UDP-glucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives. Sequence analysis of both UGT1A exon 1 and common exons 2-5 was performed in all patients, leading to the detection of AF170 and a novel mutation (470insT), both residing in UGT1A exon 1. All but two heterozygotes for the AF170 mutation showed normal serum bilirubin levels. These two subjects were also heterozygous for the sequence variation A(TA)7TAA in the promoter region of the UGT1A gene.<\/jats:p>","DOI":"10.1136\/jmg.34.2.122","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"122-125","source":"Crossref","is-referenced-by-count":16,"title":["Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I."],"prefix":"10.1136","volume":"34","author":[{"given":"M C","family":"Rosatelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Meloni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Faa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Saba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Crisponi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M G","family":"Clemente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Meloni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M T","family":"Piga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,2,1]]},"reference":[{"key":"ref_1","first-page":"169","article-title":"Congenital familial non hemolytic jaundice with kernicterus","volume":"10","author":"Crigler, J.F.; Najjar, V.A.","year":"1952","unstructured":"Crigler JF, Najjar VA. Congenital familial non hemolytic jaundice with kernicterus. Pediatrics 1952;10: 169-80.","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/S0021-9258(17)35280-8","article-title":"Cloning of two human liver bilirubin UDP-glucuronosyl-transferase cDNAs with expression in COS-1 cells","volume":"266","author":"Ritter, J.K.; Crawford, J.M.; Owens, I.S.","year":"1991","unstructured":"Ritter JK, Crawford JM, Owens IS. Cloning of two human liver bilirubin UDP-glucuronosyl-transferase cDNAs with expression in COS-1 cells. 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A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDPglucuronosyltransferase isoenzymes with identical carboxyl termini. 7 Biol Chem 1992;267:3257-6 1.","journal-title":"7 Biol Chem"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"3284","DOI":"10.1074\/jbc.270.7.3284","article-title":"Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient","volume":"270","author":"Ciotti, M.; Yeatman, M.T.; Sokol, R.J.; Owens, I.S.","year":"1995","unstructured":"Ciotti M, Yeatman MT, Sokol RJ, Owens IS. Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient. 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Gastroenterology 1993; 105:216-20.","journal-title":"Gastroenterology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1016\/S0140-6736(95)90702-5","article-title":"Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome","volume":"345","author":"Aono, S.; Adachi, Y.; Uyama, E.","year":"1995","unstructured":"Aono S, Adachi Y, Uyama E, et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet 1995;345:958-9.","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1093\/hmg\/4.7.1183","article-title":"Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase","volume":"4","author":"Koiwai 0, Nishizawa M, Hasada K","year":"1995","unstructured":"Koiwai 0, Nishizawa M, Hasada K, et al. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum Mol Genet 1995;4:1183-6.","journal-title":"Hum Mol Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1056\/NEJM199511023331802","article-title":"The genetic basis of the reduced expression of bilirubin UDPglucuronosyltransferase 1 in Gilbert's syndrome","volume":"333","author":"Bosma, P.J.; Chowdhury, JR, Bakker; C.","year":"1995","unstructured":"Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDPglucuronosyltransferase 1 in Gilbert's syndrome. 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Lancet 1996;347:557-8.","journal-title":"Lancet"},{"key":"ref_13","first-page":"23572","article-title":"A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase","volume":"268","author":"Ritter, J.K.; Yeatman, M.T.; Kaiser, C.; Gridelli, B.; Owens, I.S.","year":"1993","unstructured":"Ritter JK, Yeatman MT, Kaiser C, Gridelli B, Owens IS. A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase. Biol Chem 1993;268:23572-9.","journal-title":"Biol Chem"},{"key":"ref_14","first-page":"693","article-title":"Genetic heterogeneity of Crigler-Najjar syndrome type 1: a study of 14 cases","volume":"94","author":"Labrune, P.; Myara, A.; Hadchouel, M.","year":"1994","unstructured":"Labrune P, Myara A, Hadchouel M, et al. 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