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

A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.

European journal of human genetics : EJHG - 1 Sept 2001

Li C M, Chao H K, Liu Y F, Su T S

Abstract excerpt

Citrullinaemia is an inborn error of metabolism resulting from a deficiency of argininosuccinate synthetase. Previous studies of RNA of argininosuccinate synthetase of citrullinaemia patients using S1 nuclease analysis have identified a class of so-called RNA-negative alleles in which no stable mRNA can be detected. To investigate the nature of mutation responsible for such a phenotype, a compound heterozygous...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Argininosuccinate Synthase
Share to Citrullinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to DNA, Complementary

Share to Polymorphism, Single-Stranded Conformational

Share to RNA Precursors

Source

Identifiers

PMID: 11571557
DOI: 10.1038/sj.ejhg.5200695

Genes

CGA

Variants

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

A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.PMID 11571557Read ↗

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.Semantic proximity Read ↗

Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.Semantic proximity Read ↗

Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.Semantic proximity Read ↗

Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.Semantic proximity Read ↗

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.Semantic proximity Read ↗

The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.Semantic proximity Read ↗

Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.Semantic proximity Read ↗

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.Semantic proximity Read ↗

Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.Semantic proximity Read ↗

Mutations and DNA diagnoses of classical citrullinemia.Semantic proximity Read ↗

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesSemantic proximity Read ↗

Investigation of citrullinemia type I variants by in vitro expression studies.Semantic proximity Read ↗

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