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.
申请公布号
WO9635778(A1)
申请公布日期
1996.11.14
申请号
WO1995US05785
申请日期
1995.05.11
申请人
HUMAN GENOME SCIENCES, INC.;JI, HONGJUN;ROSEN, CRAIG, A.