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

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

The Journal of biological chemistry - 27 Jan 2012

Fu Rong, Jinnah H A

Abstract excerpt

Lesch-Nyhan disease and its attenuated variants are caused by mutations in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase. The mutations are heterogeneous, with more than 400 different mutations already documented. Prior efforts to correlate variations in the clinical phenotype with different mutations have suggested that milder phenotypes typically are...

Read the complete abstract on PubMed

Topics

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

Share to Genotype
Share to Hypoxanthine Phosphoribosyltransferase
Share to Kinetics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lesch-Nyhan Syndrome

Share to Mutagenesis, Site-Directed

Share to Mutation

Share to Phenotype

Share to Substrate Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 22157001
DOI: 10.1074/jbc.M111.317701
PMCID: PMC3270957

Genes

HPRT1

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.PMID 22157001Read ↗

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Semantic proximity Read ↗

The spectrum of mutations causing HPRT deficiency: an update.Semantic proximity Read ↗

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.Semantic proximity Read ↗

Lesch-Nyhan disease.Semantic proximity Read ↗

Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.Semantic proximity Read ↗

Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.Semantic proximity Read ↗

Lesch-Nyhan Syndrome: Models, Theories, and TherapiesSemantic proximity Read ↗

Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.Semantic proximity Read ↗

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Semantic proximity Read ↗

Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease.Semantic proximity Read ↗

Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?Semantic proximity Read ↗

The Study on the Clinical Phenotype and Function of HPRT1 GeneSemantic proximity Read ↗

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