Title : Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

Pub. Date : 2012 Jan 27

PMID : 22157001






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 In the current studies 44 HPRT1 mutations associated with a wide spectrum of clinical phenotypes were reconstructed by site-directed mutagenesis, the mutant enzymes were expressed in vitro and purified, and their kinetic properties were examined toward their substrates hypoxanthine, guanine, and phosphoribosylpyrophosphate. Hypoxanthine hypoxanthine phosphoribosyltransferase 1 Homo sapiens