Condition: Phosphoribosylpyrophosphate Synthetase Superactivity


rs137852540 in PRPS1 gene and Phosphoribosylpyrophosphate Synthetase Superactivity PMID 7593598 1995 The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.