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

BMC Pediatrics

Volumn 14, Issue 1, 2014, Pages

  Zheng, Bixia ^a   Hu, Guorui ^b   Yu, Jin ^a   Liu, Zhifeng ^a  

^a CHILDREN S HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Crigler Najjar syndrome type II; Genetic analysis; UGT1A1

Indexed keywords

ADENINE; ARGININE; ASPARTIC ACID; BILIRUBIN; CYTOSINE; GLUCURONOSYLTRANSFERASE 1A1; GLYCINE; GUANINE; PHENYLALANINE; THYMINE; TYROSINE; GLUCURONOSYLTRANSFERASE; UGT1A1 ENZYME;

ARTICLE; CASE REPORT; CHINESE; CLINICAL FEATURE; CRIGLER NAJJAR SYNDROME; CRIGLER NAJJAR SYNDROME TYPE II; DISEASE SEVERITY; EXON; FAMILY STUDY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERBILIRUBINEMIA; INFANT; JAUNDICE; LABORATORY TEST; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PHOTOTHERAPY; POPULATION GENETICS; UGT1A1 GENE; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CRIGLER-NAJJAR SYNDROME; FEMALE; GENETICS; HOMOZYGOTE; MUTATION; PEDIGREE;

ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CRIGLER-NAJJAR SYNDROME; FEMALE; GENOTYPE; GLUCURONOSYLTRANSFERASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; PEDIGREE;

EID: 84928708636     PISSN: None     EISSN: 14712431     Source Type: Journal    
DOI: 10.1186/1471-2431-14-267     Document Type: Article

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