Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia

Author:

Wohlers Travis M.,Christacos Nicole C.,Harreman Michelle T.,Fridovich-Keil Judith L.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Molecular characterization of a unique patient with epimerase-deficiency galactosaemia;Alano;J Inherit Metab Dis,1998

2. UDP-galactose-4-epimerase deficiency among African-Americans: evidence for multiple alleles;Alano;J Invest Med,1997

3. Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4′-epimerase;Daude;Biochem Mol Med,1995

4. Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase;Elsevier;Proc Natl Acad Sci USA,1996

5. Cataract and metabolic disease;Endres;J Inherit Metab Dis,1990

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