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

Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype.

American journal of medical genetics. Part A - 15 May 2005

Evdokimova Viktoria N, McLoughlin Reagan K, Wenger Sharon L, Grant Stephen G

Abstract excerpt

A 7-year-old girl was hospitalized with pancytopenia requiring blood transfusion. She and an older brother with suspicious symptoms were referred for laboratory testing to confirm a clinical diagnosis of Fanconi anemia (FA). Blood samples from these two children and one parent were examined with the GPA somatic mutation assay. The patient's total GPA somatic mutation frequency of 1.4 x 10(-4) was determined...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Child

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

Share to Family Health

Share to Fanconi Anemia

Share to Gene Frequency

Share to Genotype

Share to Glycophorins

Share to Homozygote

Source

Open in PubMed Open full text

Identifiers

PMID: 15822129
DOI: 10.1002/ajmg.a.30687
PMCID: PMC4849896

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype.PMID 15822129Read ↗

The GPA in vivo somatic mutation assay.Semantic proximity Read ↗

Diagnosis of ataxia telangiectasia with the glycophorin A somatic mutation assay.Semantic proximity Read ↗

The blood-based glycophorin A (GPA) human in vivo somatic mutation assay.Semantic proximity Read ↗

Increased frequency of somatic mutations at glycophorin A loci in patients with aplastic anaemia, myelodysplastic syndrome and paroxysmal nocturnal haemoglobinuria.Semantic proximity Read ↗

In vivo somatic mutation and segregation at the human glycophorin A (GPA) locus: phenotypic variation encompassing both gene-specific and chromosomal mechanisms.Semantic proximity Read ↗

Elevated somatic mutation and evidence of genomic instability in veterans with Gulf War illness.Semantic proximity Read ↗

Frequencies of HPRT- lymphocytes and glycophorin A variants erythrocytes in Fanconi anemia patients, their parents and control donors.Semantic proximity Read ↗

Erythrocyte-Based Pig-a Gene Mutation Assay.Semantic proximity Read ↗

Erythrocyte-based Pig-a gene mutation assay.Semantic proximity Read ↗

Genomic instability in scleroderma.Semantic proximity Read ↗

Human in vivo somatic mutation measured at two loci: individuals with stably elevated background erythrocyte glycophorin A (gpa) variant frequencies exhibit normal T-lymphocyte hprt mutant frequencies.Semantic proximity Read ↗

Increased glycophorin A somatic cell variant frequency in arsenic-exposed patients of Guizhou, China.Semantic proximity Read ↗

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