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

Selected Exonic Sequencing of the AGXT Gene Provides a Genetic Diagnosis in 50% of Patients with Primary Hyperoxaluria Type 1

11 May 2007

Abstract excerpt

BACKGROUND: Definitive diagnosis of primary hyperoxaluria type 1 (PH1) requires analysis of alanine:glyoxylate aminotransferase (AGT) activity in the liver. We have previously shown that targeted screening for the 3 most common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) can provide a molecular diagnosis in 34.5% of PH1 patients, eliminating the need for a liver biopsy. Having reviewed the...

Read the complete abstract on PubMed

Topics

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

Share to Biomedical Research and Pathophysiology
Share to Gallbladder and Bile Duct Disorders
Share to Kidney Stones and Urolithiasis Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 17495019
DOI: 10.1373/clinchem.2006.084434

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Selected Exonic Sequencing of the AGXT Gene Provides a Genetic Diagnosis in 50% of Patients with Primary Hyperoxaluria Type 1PMID 17495019Read ↗

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.Semantic proximity Read ↗

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.Semantic proximity Read ↗

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.Semantic proximity Read ↗

Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.Semantic proximity Read ↗

Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.Semantic proximity Read ↗

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.Semantic proximity Read ↗

Identification of new mutations in primary hyperoxaluria type 1 (PH1).Semantic proximity Read ↗

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.Semantic proximity Read ↗

Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.Semantic proximity Read ↗

AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.Semantic proximity Read ↗

Molecular Aetiology of Primary Hyperoxaluria Type 1Semantic proximity Read ↗

Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.Semantic proximity Read ↗

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