Analysis of UDP-galactose 4′-epimerase mutations associated with the intermediate form of type III galactosaemia

Journal of Inherited Metabolic Disease

Volumn 31, Issue 1, 2008, Pages 108-116

  Chhay, J S ^a   Vargas, C A ^a   McCorvie, T J ^b   Fridovich Keil, J L ^a   Timson, D J ^b  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

ARTICLE; CONTROLLED STUDY; DIMERIZATION; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; ENZYME DEGRADATION; ENZYME KINETICS; ENZYME STRUCTURE; GALACTOSEMIA; GALACTOSEMIA TYPE III; GENE DELETION; GENE EXPRESSION SYSTEM; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; IN VITRO STUDY; METABOLIC DISORDER; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PROTEIN POLYMERIZATION; SACCHAROMYCES CEREVISIAE; WILD TYPE;

DNA MUTATIONAL ANALYSIS; GALACTOSEMIAS; GENETIC HETEROGENEITY; HUMANS; MODELS, BIOLOGICAL; MODELS, MOLECULAR; MUTANT PROTEINS; MUTATION; PROTEIN CONFORMATION; RECOMBINANT PROTEINS; SACCHAROMYCES CEREVISIAE; TRANSFECTION; UDPGLUCOSE 4-EPIMERASE;

EID: 40849131035     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0790-9     Document Type: Article

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