Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4- epimerase

American Journal of Human Genetics

Volumn 61, Issue 3, 1997, Pages 590-598

  Quimby, B B ^a   Alano, A ^a   Almashanu, S ^a   DeSandro, A M ^a   Cowan, T M ^a   Fridovich Keil, J L ^b  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EPIMERASE; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

ALLELE; ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GALACTOSEMIA; GENE MUTATION; GENE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

GALE;

EID: 0030826263     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515517     Document Type: Article

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