Polynucleotides encoding human uridine diphosphate galactose-4-e

Details Polynucleotides encoding human uridine diphosphate galactose-4-e Polynucleotides encoding human uridine diphosphate galactose-4-e

1998-07-10

2000-11-28

Achutamurthy, Ponnathapu

Organic compounds -- part of the class 532-570 series

Organic compounds

Carbohydrates or derivatives

435 6, 435 691, 435233, 4352523, 4353201, 536 2431, C12N 1561, C12N 1563, C12N 1570, C12N 1585, C12Q 168

Patent

active

06153739&

ABSTRACT:
A human UDP galactose-4-epimerase polypeptide and DNA (RNA) encoding such polypeptide and a procedure for producing such polypeptide by recombinant techniques is disclosed. Also disclosed are methods for utilizing such polypeptide for the treatment of galactosemia. Also disclosed are diagnostic assays for the detection of mutations in the nucleic acid sequencing encoding human UDP galactose-4-epimerase protein and for detecting an altered level of human UDP galactose-4-epimerase protein in a sample derived from a host.

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Daude et al., Biochemical and Molecular Med., 56:1-7 (1995).
Webster et al., Nucl. Acids Res., 16(16):8192-8194 (1988).
Jaye et al., Nucl. Acids Res., 11(8):2325-2335 (1983).

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