Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

New mutation affecting hypoxanthine phosphoribosyltransferase responsible for severe tophaceous gout.

The Journal of rheumatology - 1 Jun 2014

Lahaye Clément, Augé Franck, Soubrier Martin, Ceballos-Picot Irène

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Gout
Share to Hypoxanthine Phosphoribosyltransferase
Share to Mutation
Share to Young Adult

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24882866
DOI: 10.3899/jrheum.131168

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New mutation affecting hypoxanthine phosphoribosyltransferase responsible for severe tophaceous gout.PMID 24882866Read ↗

The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.Semantic proximity Read ↗

A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRT HongKong), in a Chinese teenager with recurrent gouty arthritis.Semantic proximity Read ↗

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Semantic proximity Read ↗

Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout.Semantic proximity Read ↗

Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.Semantic proximity Read ↗

Molecular analysis of mutation in the human gene for hypoxanthine phosphoribosyltransferase.Semantic proximity Read ↗

Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.Semantic proximity Read ↗

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.Semantic proximity Read ↗

Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan.Semantic proximity Read ↗

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].Semantic proximity Read ↗

Novel mutations in the human HPRT gene.Semantic proximity Read ↗

A missense mutation in the hypoxanthine phosphoribosyltransferase gene in a pediatric patient with hyperuricemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.