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

Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2)

1 Aug 2000

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 Biomedical Research and Pathophysiology
Share to Kidney Stones and Urolithiasis Treatments
Share to Porphyrin Metabolism and Disorders

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 11030416
DOI: 10.1007/s004390000351

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2)PMID 11030416Read ↗

A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.Semantic proximity Read ↗

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.Semantic proximity Read ↗

Title: Identification of a novel GRHPR mutation in primary hyperoxaluria type 2 and establishment of patient-derived iPSC line.Semantic proximity Read ↗

An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.Semantic proximity Read ↗

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.Semantic proximity Read ↗

Genetic basis of primary hyperoxaluria type II.Semantic proximity Read ↗

Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.Semantic proximity Read ↗

Clinical and molecular characterization of primary hyperoxaluria in Egypt.Semantic proximity Read ↗

Re: Mutations in DHDPSL are Responsible for Primary Hyperoxaluria Type III.Semantic proximity Read ↗

Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.Semantic proximity Read ↗

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.Semantic proximity Read ↗

Primary hyperoxaluria type 2 in children.Semantic proximity Read ↗

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