Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia

Molecular Genetics and Metabolism

Volumn 84, Issue 1, 2005, Pages 32-38

  Wasilenko, Jamie ^a   Lucas, Mary E ^a   Thoden, James B ^b   Holden, Hazel M ^b   Fridovich Keil, Judith L ^c  

^a EMORY UNIVERSITY   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

G319E; Galactosemia; GALE; K257R; UDP galactose 4 epimerase; Yeast

Indexed keywords

NICOTINAMIDE ADENINE DINUCLEOTIDE; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPIMERASE DEFICIENCY GALACTOSEMIA; ERYTHROCYTE MEMBRANE; FUNGAL STRAIN; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ALIGNMENT; SUBSTITUTION REACTION; WILD TYPE;

ALLELES; AMINO ACID SEQUENCE; BLOOD CELLS; BLOTTING, WESTERN; GALACTOSE; GALACTOSEMIAS; GENE EXPRESSION; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PLASMIDS; PROTEIN CONFORMATION; SACCHAROMYCES CEREVISIAE; SEQUENCE ALIGNMENT; TRANSFECTION; UDPGLUCOSE 4-EPIMERASE;

EID: 11444269250     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.09.003     Document Type: Article

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