Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene [2]

Journal of Hepatology

Volumn 36, Issue 5, 2002, Pages 706-707

  Kraemer, Doris ^a   Klinker, Hartwig ^a  

^a UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE; PHENOBARBITAL;

ADULT; AUTOSOMAL RECESSIVE INHERITANCE; BILE FLOW; CASE REPORT; CAUCASIAN; CLINICAL FEATURE; CRIGLER NAJJAR SYNDROME; DISEASE CLASSIFICATION; DISEASE COURSE; ENZYME ACTIVITY; EXON; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GILBERT DISEASE; GLUCURONIDATION; HOMOZYGOSITY; HUMAN; LETTER; LIVER TRANSPLANTATION; MALE; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TREATMENT OUTCOME;

ADULT; BASE SEQUENCE; CRIGLER-NAJJAR SYNDROME; EUROPEAN CONTINENTAL ANCESTRY GROUP; GLUCURONOSYLTRANSFERASE; HUMANS; MALE; MUTATION, MISSENSE;

EID: 0036261324     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(02)00034-X     Document Type: Letter

References (6)

1. The genetic basis of the reduced expression of bilirubin UDP-glucoronosyltransferase 1 in Gilbert's syndrome
2. Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese
3. Molecular genetic basis of Gilbert's syndrome
4. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGTIA1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype
5. Mutation of UGTIA1 gene in a case of Crigler-Najjar Syndrome type II
6. Analysis of bilirubin uridine 5′-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II