[1] LI H,DURBIN R. Fast and accurate long-read alignment with Burrows-Wheeler transform[J]. Bioinformatics,2010,26(5):589-595.
|
[2] ZHANG L,ZHANG J,YANG J,et al. Pri Var:A toolkit for prioritizing SNVs and indels from next-generation sequencing data[J]. Bioinformatics,2013,29(1):124-125.
|
[3] RANJAN P,KOHLI S,SAXENA R,et al. Mutation analysis in Crigler-Najjar syndrome type II-case report and literature review[J]. J Clin Exp Hepatol,2011,1(3):204-206.
|
[4] RADLOVIC'N. Hereditary hyperbilirubinemias[J]. Srp Arh Celok Lek,2014,142(3-4):257-260.
|
[5] RODRIGUES C,VIEIRA E,SANTOS R,et al. Impact of UGT1A1gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects[J]. Blood Cells Mol Dis,2012,48(3):166-172.
|
[6] SUGATANI J. Function,genetic polymorphism,and transcriptional regulation of human UDP-glucuronosyltransferase(UGT)1A1[J]. Drug Metab Pharmacokinet,2013,28(2):83-92.
|
[7] OWENS IS,BASU NK,BANERJEE R. UDP-glucuronosyltransferases:Gene structures of UGT1 and UGT2 families[J].Methods Enzymol,2005,400:1-22.
|
[8] YUEH MF,CHEN S,NGUYEN N,et al. Developmental,genetic,dietary,and xenobiotic influences on neonatal hyperbilirubinemia[J]. Mol Pharmacol,2017,91(5):545-553.
|
[9] HUANG CS,CHANG PF,HUANG MJ,et al. Glucose-6-phosphate dehydrogenase deficiency,the UDP-glucuronosyl transferase 1A1 gene,and neonatal hyperbilirubinemia[J].Gastroenterology,2002,123(1):127-133.
|
[10] MARUO Y,NAKAHARA S,YANAGI T,et al. Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome[J]. J Gastroenterol Hepatol,2016,31(2):403-408.
|
[11] MARUO Y,D’ADDARIO C,MORI A,et al. Two linked polymorphic mutations(A(TA)7TAA and T-3279G)of UGT1A1as the principal cause of Gilbert syndrome[J]. Hum Genet,2004,115(6):525-526.
|
[12] KOIWAI O,NISHIZAWA M,HASADA K,et al. Gilbert’s syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase[J]. Hum Mol Genet,1995,4(7):1183-1186.
|
[13] MARUO Y,SATO H,YAMANO T,et al. Gilbert syndrome caused by a homozygous missense mutation(Tyr486Asp)of bilirubin UDP-glucuronosyltransferase gene[J]. J Pediatr,1998,132(6):1045-1047.
|
[14] MARUO Y,WADA S,YAMAMOTO K,et al. A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene[J]. Eur J Pediatr,1999,158(7):547-549.
|
[15] STRASSBURG CP. Hyperbilirubinemia syndromes(GilbertMeulengracht,Crigler-Najjar,Dubin-Johnson,and Rotor syndrome)[J]. Best Pract Res Clin Gastroenterol,2010,24(5):555-571.
|
[16] MARUO Y,BEHNAM M,IKUSHIRO S,et al. Two different UGT1A1 mutations causing Crigler-Najjar syndrome types I and II in an Iranian family[J]. J Gastrointestin Liver Dis,2015,24(4):523-526.
|
[17] GAILITE L,ROTS D,PUKITE I,et al. Case report:Multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome[J]. BMC Pediatr,2018,18(1):317.
|
[18] ZHENG B,HU G,YU J,et al. Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase(UGT1A1)gene and a family genetic analysis[J]. BMC Pediatr,2014,14:267.
|
[19] WU JX,CHENG GY,HUANG J. A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis[J]. J Dig Dis,2008,9(2):89-94.
|
[20] YAMAMOTO K,SATO H,FUJIYAMA Y,et al. Contribution of two missense mutations(G71R and Y486D)of the bilirubin UDP glycosyltransferase(UGT1A1)gene to phenotypes of Gilbert’s syndrome and Crigler-Najjar syndrome type II[J].Biochim Biophys Acta,1998,1406(3):267-273.
|
[21] MARUO Y,OZGENC F,MIMURA Y,et al. Compound heterozygote of a novel missense mutation(p. K402T)and a double missense mutation(p.[G71R; Y486D])in type II CriglerNajjar syndrome[J]. J Pediatr Gastroenterol Nutr,2011,52(3):362-365.
|
[22] MINUCCI A,CANU G,GENTILE L,et al. Identification of a novel mutation in UDP-glucuronosyltransferase(UGT1A1)gene in a child with neonatal unconjugated hyperbilirubinemia[J]. Clin Biochem,2013,46(1-2):170-172.
|