Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome

Journal of Pediatric Gastroenterology and Nutrition

Volumn 52, Issue 3, 2011, Pages 362-365

  Maruo, Yoshihiro ^a   Ozgenc, Funda ^b   Mimura, Yu ^a   Ota, Yoriko ^a   Matsui, Katsuyuki ^a   Takahashi, Hiroko ^a   Mori, Asami ^a   Taga, Takashi ^a   Takano, Tomoyuki ^a   Sato, Hiroshi ^a   Takeuchi, Yoshihiro ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b EGE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARTIC ACID; GENOMIC DNA; GLUCURONOSYLTRANSFERASE 1A1; GLYCINE; LYSINE; PHENOBARBITAL; THREONINE; TYROSINE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CRIGLER NAJJAR SYNDROME; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HYPERBILIRUBINEMIA; INFANT; LABORATORY TEST; MALE; MISSENSE MUTATION; NEWBORN JAUNDICE; NONHUMAN; PHOTOTHERAPY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; THIN LAYER CHROMATOGRAPHY; WESTERN BLOTTING;

CRIGLER-NAJJAR SYNDROME; DNA MUTATIONAL ANALYSIS; GLUCURONOSYLTRANSFERASE; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION, MISSENSE;

EID: 79952317740     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e3181fcafb8     Document Type: Article

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