Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome

Pediatrics International

Volumn 44, Issue 4, 2002, Pages 427-432

  Sutomo, Retno ^a   Laosombat, Vichai ^b   Sadewa, Ahmad Hamim ^a   Yokoyama, Naoki ^a   Nakamura, Hajime ^a   Matsuo, Masafumi ^a   Nishio, Hisahide ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b PRINCE OF SONGKLA UNIVERSITY   (Thailand)

Author keywords

Autosomal recessive inheritance trait; Gilbert's syndrome; Neonatal jaundice; Uridine diphosphate glucuronosyl transferase 1 (UGT1A1) gene

Indexed keywords

ENZYME; LEUCINE; NUCLEOTIDE; PHENYLALANINE;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CLINICAL TRIAL; CODON; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; ENZYMATIC ASSAY; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GILBERT DISEASE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INCIDENCE; INFANCY; JAPAN; MISSENSE MUTATION; NEWBORN JAUNDICE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RACE; RECURRENT DISEASE; SIBLING; THAILAND; UGT1A1 GENE;

EID: 0036039396     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2002.01577.x     Document Type: Article

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