A new type of defect in the gene for bilirubin uridine 5 ′-diphosphate-glucuronosyltransferase in a patient with crigler-najjar syndrome type I

Pediatric Research

Volumn 35, Issue 6, 1994, Pages 629-632

  Aono, Sachiko ^a   Yamada, Yasukazu ^a   Keino, Hiroomi ^a   Sasaoka, Yoshiko ^b   Nakagawa, Tsuneo ^b   Onishi, Shoju ^c   Mimura, Shunjl ^d   Koiwai, Osamu ^e   Sato, Hiroshi ^f  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b Okazaki City Hospital   (Japan)

^c KAGAWA UNIVERSITY   (Japan)

^d NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e AICHI CANCER CENTER HOSPITAL   (Japan)

^f SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; COMPLEMENTARY DNA; GLUCURONOSYLTRANSFERASE; PHENOBARBITAL;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CRIGLER NAJJAR SYNDROME; EXON; GENE DELETION; GENE MUTATION; GENETIC ORGANIZATION; HOMOZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; INFANT; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; CASE REPORT; CRIGLER-NAJJAR SYNDROME; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; GENES, RECESSIVE; GLUCURONOSYLTRANSFERASE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; SUPPORT, NON-U.S. GOV'T;

EID: 0028287482     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/00006450-199406000-00002     Document Type: Article

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