Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1 A1 gene

Clinical Genetics

Volumn 69, Issue 6, 2006, Pages 525-527

  Petit, F ^a   Gajdos, V ^a   Capel, L ^a   Parisot, F ^a   Myara, A ^b   Francoual, J ^a   Labrune, Philippe ^a  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

^b SAINT JOSEPH HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GENOMIC DNA; GLUCURONOSYLTRANSFERASE 1A1; PHENOBARBITAL;

AMINO ACID SUBSTITUTION; BILIRUBIN BLOOD LEVEL; CLINICAL ARTICLE; CRIGLER NAJJAR SYNDROME; DRUG RESPONSE; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERBILIRUBINEMIA; INTRON; LETTER; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION;

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CRIGLER-NAJJAR SYNDROME; GENETIC HETEROGENEITY; GLUCURONOSYLTRANSFERASE; HUMANS; INFANT; MUTATION; POINT MUTATION; SEQUENCE DELETION;

EID: 33646777398     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00616.x     Document Type: Letter

References (14)

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