Functional analysis of disease-causing mutations in human galactokinase

European Journal of Biochemistry

Volumn 270, Issue 8, 2003, Pages 1767-1774

  Timson, David J ^a   Reece, Richard J ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Cataracts; Galactosemia; GALK1; GHMP family kinase

Indexed keywords

ADENOSINE TRIPHOSPHATE; GALACTOKINASE; ISOTOPE; PROTEIN SUBUNIT; RECOMBINANT ENZYME; SOLVENT;

ARTICLE; CATALYSIS; CATARACT; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME INHIBITION; ENZYME KINETICS; ENZYME SUBSTRATE COMPLEX; ESCHERICHIA COLI; FUNCTIONAL ASSESSMENT; GALACTOSEMIA; GENE MUTATION; GENETIC DISORDER; HUMAN; INHERITANCE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN MODIFICATION; PROTON TRANSPORT; SOLUBILITY; STRUCTURE ACTIVITY RELATION; WILD TYPE;

AMINO ACID SUBSTITUTION; CATARACT; CLONING, MOLECULAR; ESCHERICHIA COLI; GALACTOKINASE; GALACTOSEMIAS; HUMANS; KINETICS; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; POINT MUTATION; RECOMBINANT PROTEINS;

ESCHERICHIA COLI; PROKARYOTA;

EID: 0038409000     PISSN: 00142956     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1432-1033.2003.03538.x     Document Type: Article

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