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Synthesis of normal and variant human hypoxanthine-guanine phosphoribosyltransferase in Escherichia coli
(Elsevier, 1993-01-30)
Naturally occurring mutations in hypoxanthine-guanine phosphoribosyltransferase (HPRT) have been identified by amino acid sequencing, cDNA cloning, and direct nucleotide sequencing of PCR-amplified transcripts. To determine ...
A 13 base pair deletion in exon 1 of HPRT Illinois forms a functional GUG initiation codon
(Springer-Verlag, 1994-03)
More than 50 mutations in the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus have been described, yet only 2 alter the AUG initiation codon. One, variant HPRT 1151 , results in Lesch-Nyhan syndrome (LNS), ...
Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes
(Elsevier, 1990-11)
Cloned cDNAs representing the entire, homologous (80%) translated sequences of human phosphoribosylpyrophosphate synthetase (PRS) 1 and PRS 2 cDNAs were utilized as probes to localize the corresponding human PRPS1 and PRPS2 ...