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Article

Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem.

Nucleosides, nucleotides & nucleic acids - 1 Oct 2004

Zoref-Shani E, Bromberg Y, Hirsch J, Feinstein S, Frishberg Y, Sperling O

Abstract excerpt

A novel point mutation (I137T) was identified in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) encoding gene, in a patient with partial deficiency of the enzyme. The mutation, ATT to ACT (substitution of isoleucine to threonine), occurred at codon 137, which is within the region encoding the binding site for 5-phosphoribosyl-1-pyrophosphate (PRPP). The mutation caused decreased affinity for PRPP,...

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Identifiers

PMID: 15571222
DOI: 10.1081/NCN-200027436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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