Functional Analysis of the Human Galactose-1-Phosphate Uridyltransferase Promoter in Duarte and LA Variant Galactosemia

Author:

Elsas Louis J.,Lai Kent,Saunders Carol J.,Langley Sharon D.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference29 articles.

1. Enzymatic transformation of uridine diphosphate glucose into galactose derivative;Leloir;Arch Biochem Biophys,1957

2. Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase;Reichardt;Mol Biol Med,1988

3. Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase;Flach;Mol Biol Med,1990

4. The human galactose-1-phosphate uridyl transferase gene;Leslie;Genomics,1992

5. Rat galactose-1-phosphate uridyltransferase coding sequence, transcription start site and genomic organization;Heidenreich;J DNA Sequencing Mapping,1993

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