Molecular characterization of a unique patient with epimerase-deficiency galactosaemia

Author:

Alano A.,Almashanu S.,Chinsky J. M.,Costeas P.,Blitzer M. G.,Wulfsberg E. A.,Cowan T. M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

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

2. Assignment of the gene for uridine diphosphate galactose-4-epimerase to human chromo-some 1 by somatic cell hybridization with evidence for a regional assignment to 1pter-1p21;Benn;Cytogenet Cell Genet,1979

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

4. Deficiency of uridine diphosphate galactose-4-epimerase in blood cells of an apparently healthy infant;Gitzelmann;Helv Paediatr Acta,1972

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