{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T21:10:25Z","timestamp":1787605825473,"version":"build-2736575974"},"reference-count":57,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T00:00:00Z","timestamp":1364774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T00:00:00Z","timestamp":1364774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Cells, Molecules, and Diseases"],"published-print":{"date-parts":[[2013,4]]},"DOI":"10.1016\/j.bcmd.2013.01.003","type":"journal-article","created":{"date-parts":[[2013,2,8]],"date-time":"2013-02-08T21:23:30Z","timestamp":1360358610000},"page":"273-280","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":73,"title":["Gilbert and Crigler Najjar syndromes: An update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database"],"prefix":"10.1016","volume":"50","author":[{"given":"Giulia","family":"Canu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Minucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Zuppi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ettore","family":"Capoluongo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bcmd.2013.01.003_bb0005","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.bcmd.2005.10.006","article-title":"Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler\u2013Najjar syndromes","volume":"36","author":"Costa","year":"2006","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0010","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1111\/j.1399-0004.2006.00616.x","article-title":"Crigler\u2013Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene","volume":"69","author":"Petit","year":"2006","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0015","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/0014-5793(96)00677-1","article-title":"A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler\u2013Najjar type II","volume":"390","author":"Seppen","year":"1996","journal-title":"FEBS Lett."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0020","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1002\/humu.9322","article-title":"Spectrum of UGT1A1 mutations in Crigler\u2013Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype\u2013phenotype correlation","volume":"25","author":"Servedio","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0025","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z","article-title":"Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltranferase (UGT1A1) causing Crigler\u2013Najjar and Gilbert syndromes: correlation of genotype to phenotype","volume":"16","author":"Kadakol","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0030","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1006\/bbrc.1993.2610","article-title":"Identification of defect in the genes of bilirubin UDP-glucruronosyltransferase in a patient with Crigler\u2013Najjar syndrome type II","volume":"197","author":"Aono","year":"1993","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0035","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/FTD.0b013e3181633824","article-title":"Genetic variations and haplotypes of UDP-glucuronosyltransferase 1A locus in a Korean population","volume":"30","author":"Yea","year":"2008","journal-title":"Ther. Drug Monit."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0040","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1046\/j.1442-200X.2002.01577.x","article-title":"Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome","volume":"44","author":"Sutomo","year":"2002","journal-title":"Pediatr. Int."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0045","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.clpt.2004.01.010","article-title":"UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer","volume":"75","author":"Sai","year":"2004","journal-title":"Clin. Pharmacol. Ther."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0050","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1097\/MPG.0b013e3181638c8b","article-title":"Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler\u2013Najjar syndrome type I","volume":"46","author":"Maruo","year":"2008","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0055","doi-asserted-by":"crossref","first-page":"2269","DOI":"10.3748\/wjg.v12.i14.2269","article-title":"Gilbert's syndrome: high frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene","volume":"12","author":"Farheen","year":"2006","journal-title":"World J. Gastroenterol."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0060","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1016\/S0929-6646(09)60182-0","article-title":"Crigler\u2013Najjar syndrome type 2","volume":"105","author":"Huang","year":"2006","journal-title":"J. Formos. Med. Assoc."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0065","doi-asserted-by":"crossref","first-page":"2385","DOI":"10.1172\/JCI117604","article-title":"Discrimination between Crigler\u2013Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase","volume":"94","author":"Seppen","year":"1994","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0070","doi-asserted-by":"crossref","first-page":"233","DOI":"10.4103\/0971-6866.100776","article-title":"Crigler\u2013Najjar syndrome type 2: novel UGT1A1 mutation","volume":"18","author":"Nair","year":"2012","journal-title":"Indian J. Hum. Genet."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0075","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.bcmd.2012.01.004","article-title":"Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects","volume":"48","author":"Rodrigues","year":"2012","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0080","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/humu.21133","article-title":"Crigler\u2013Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype\u2013phenotype correlation, and functional analysis of 10 missense mutants","volume":"31","author":"Sneitz","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0085","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/0016-5085(93)90029-C","article-title":"A mutation in bilirubin uridine 5\u2032-diphosphate-glucuronosyltransferase isoform 1 causing Crigler\u2013Najjar syndrome type II","volume":"105","author":"Bosma","year":"1993","journal-title":"Gastroenterology"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0090","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1136\/jmg.37.9.712","article-title":"Crigler\u2013Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5\u2032-diphosphate-glucuronosyltransferase (UGT1A1) gene","volume":"9","author":"Iolascon","year":"2000","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0095","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.bcmd.2012.05.004","article-title":"Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler\u2013Najjar syndrome type II in an Italian patient","volume":"49","author":"Minucci","year":"2012","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0100","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":"7","author":"Koiwai","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0105","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\u2013Najjar type I patient","volume":"270","author":"Ciotti","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0110","unstructured":"A. Minucci, et al. (2009) data not published."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0115","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1007\/BF00206965","article-title":"Genetic heterogeneity of Crigler\u2013Najjar syndrome type I: a study of 14 cases","volume":"94","author":"Labrune","year":"1994","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0120","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/S0925-4439(98)00030-1","article-title":"A coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler\u2013Najjar type I disease","volume":"1407","author":"Ciotti","year":"1998","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0125","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1172\/JCI117008","article-title":"Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro","volume":"93","author":"Erps","year":"1994","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0130","first-page":"210","article-title":"Delayed response to phenobarbital treatment of a Crigler\u2013Najjar type II patient with partially inactivating missense mutations in the bilirubin UDP glucuronosyltransferase gene","volume":"28","author":"Ciotti","year":"1999","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0135","doi-asserted-by":"crossref","first-page":"2859","DOI":"10.1096\/fasebj.6.10.1634050","article-title":"Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler\u2013Najjar syndrome, type I","volume":"6","author":"Bosma","year":"1992","journal-title":"FASEB J."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0140","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1006\/geno.1993.1451","article-title":"Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler\u2013Najjar syndrome type 2","volume":"18","author":"Moghrabi","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0145","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1002\/pbc.22313","article-title":"Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler\u2013Najjar syndrome","volume":"54","author":"Aggarwal","year":"2010","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0150","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1111\/j.1440-1746.2004.03370.x","article-title":"Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler\u2013Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects","volume":"19","author":"Takeuchi","year":"2004","journal-title":"J. Gastroenterol. Hepatol."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0155","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.clinbiochem.2012.10.007","article-title":"Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia","volume":"46","author":"Minucci","year":"2013","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0160","doi-asserted-by":"crossref","first-page":"133","DOI":"10.3324\/haematol.10585","article-title":"Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia","volume":"92","author":"D'Apolito","year":"2007","journal-title":"Haematologica"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0165","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<173::AID-AJMG10>3.0.CO;2-R","article-title":"Genetic defects at the UGT1 locus associated with Crigler\u2013Najjar type I disease, including a prenatal diagnosis","volume":"68","author":"Ciotti","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0170","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1159\/000238122","article-title":"Pregnancy outcome in maternal Crigler\u2013Najjar syndrome type II: a case report and systematic review of the literature","volume":"26","author":"Passuello","year":"2009","journal-title":"Fetal Diagn. Ther."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0175","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1002\/humu.10122","article-title":"Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler\u2013Najjar type II syndrome","volume":"20","author":"Labrune","year":"2002","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0180","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1159\/000209851","article-title":"UGT1A1 haplotype mutation among Asians in Singapore","volume":"96","author":"Zhou","year":"2009","journal-title":"Neonatology"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0185","first-page":"627","article-title":"A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler\u2013Najjar syndrome type 1","volume":"37","author":"Maruo","year":"2003","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0190","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1053\/gast.1997.v112.pm9178703","article-title":"Kernicterus in an adult who is heterozygous for Crigler\u2013Najjar syndrome and homozygous for Gilbert-type genetic defect","volume":"112","author":"Chalasani","year":"1997","journal-title":"Gastroenterology"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0195","doi-asserted-by":"crossref","first-page":"667","DOI":"10.3892\/mmr.2012.950","article-title":"Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler\u2013Najjar syndrome patient","volume":"6","author":"Liu","year":"2012","journal-title":"Mol. Med. Rep."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0200","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1159\/000088844","article-title":"Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population","volume":"89","author":"Yusoff","year":"2006","journal-title":"Biol. Neonate"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0205","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1086\/301756","article-title":"Splice-site mutations: a novel genetic mechanism of Crigler\u2013Najjar syndrome type 1","volume":"62","author":"Gantla","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0210","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1111\/j.1440-1754.2005.00616.x","article-title":"Severe hyperbilirubinaemia in a Chinese girl with type I Crigler\u2013Najjar syndrome: first case ever reported in Mainland China","volume":"41","author":"Nong","year":"2005","journal-title":"J. Paediatr. Child Health"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0215","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1203\/00006450-199406000-00002","article-title":"A new type of defect in the gene for bilirubin uridine 5\u2032-diphosphate-glucuronosyltransferase in a patient with Crigler\u2013Najjar syndrome type I","volume":"35","author":"Aono","year":"1994","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0225","doi-asserted-by":"crossref","first-page":"23573","DOI":"10.1016\/S0021-9258(19)49501-X","article-title":"A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler\u2013Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase","volume":"268","author":"Ritter","year":"1993","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0230","first-page":"301","article-title":"Gene symbol: UGT1A1. Disease: Crigler\u2013Najjar syndrome 1","volume":"124","author":"Costa","year":"2008","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0235","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1006\/mgme.2001.3284","article-title":"A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler\u2013Najjar syndrome type 1","volume":"75","author":"Sappal","year":"2002","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0240","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1097\/00008571-200110000-00011","article-title":"A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler\u2013Najjar syndrome type II","volume":"11","author":"Huang","year":"2001","journal-title":"Pharmacogenetics"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0245","first-page":"306","article-title":"Identification of the deletions in the UGT1A1 gene of the patients with Crigler\u2013Najjar syndrome type I from Slovakia","volume":"26","author":"Zmet\u00e1kov\u00e1","year":"2007","journal-title":"Gen. Physiol. Biophys."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0250","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.3324\/haematol.13295","article-title":"Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler\u2013Najjar type I syndrome","volume":"93","author":"Petit","year":"2008","journal-title":"Haematologica"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0255","first-page":"4109","article-title":"A new frame-shifting mutation of UGT1A1 gene causes type I Crigler\u2013Najjar syndrome","volume":"124","author":"Wang","year":"2011","journal-title":"Chin. Med. J. (Engl.)"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0260","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1136\/jmg.34.2.122","article-title":"Molecular analysis of patients of Sardinian descent with Crigler\u2013Najjar syndrome type I","volume":"34","author":"Rosatelli","year":"1997","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0265","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.bcmd.2005.09.002","article-title":"Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler\u2013Najjar syndromes","volume":"36","author":"Costa","year":"2006","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0270","first-page":"485","article-title":"Novel human pathological mutations. Gene symbol: UGT1A1. Disease: Crigler\u2013Najjar syndrome 1","volume":"127","author":"Kohli","year":"2010","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0275","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1056\/NEJM199511023331802","article-title":"The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome","volume":"333","author":"Bosma","year":"1995","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0280","first-page":"106","article-title":"(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome","volume":"84","author":"Iolascon","year":"1999","journal-title":"Haematologica"},{"key":"10.1016\/j.bcmd.2013.01.003_bb0285","doi-asserted-by":"crossref","first-page":"8170","DOI":"10.1073\/pnas.95.14.8170","article-title":"Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?","volume":"95","author":"Beutler","year":"1998","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bcmd.2013.01.003_bb0290","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1006\/bbrc.2002.6683","article-title":"Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia","volume":"292","author":"Sugatani","year":"2002","journal-title":"Biochem. Biophys. Res. Commun."}],"container-title":["Blood Cells, Molecules, and Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979613000041?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979613000041?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T12:29:40Z","timestamp":1761049780000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1079979613000041"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4]]},"references-count":57,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["S1079979613000041"],"URL":"https:\/\/doi.org\/10.1016\/j.bcmd.2013.01.003","relation":{},"ISSN":["1079-9796"],"issn-type":[{"value":"1079-9796","type":"print"}],"subject":[],"published":{"date-parts":[[2013,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Gilbert and Crigler Najjar syndromes: An update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database","name":"articletitle","label":"Article Title"},{"value":"Blood Cells, Molecules, and Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bcmd.2013.01.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}