. . . . . . . "[The mutation in HPRTFlint disrupts a strongly conserved region among PRTases from Escherichia coli, rodents and man, suggesting an important role for this region for the normal function of HPRT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:13:28+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .