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 novel SNaPshot assay to detect genetic mutations related to iron metabolism.

Genetic testing and molecular biomarkers - 1 Mar 2011

Bertoncini Stefania, Blanco-Rojo Ruth, Baeza Carlos, Arroyo-Pardo Eduardo, Vaquero María Pilar, López-Parra Ana Maria

Abstract excerpt

The minisequencing method is a cost-effective tool to study single-nucleotide polymorphisms in human disease. For this reason, a novel polymerase chain reaction multiplex SNaPshot reaction has been developed that targets 10 autosomal mutations in genes, or regions near to them, reported to be involved in iron metabolism: TMPRSS6, TF, and HFE. To validate this multiplex, 284 samples from unrelated women from the...

Read the complete abstract on PubMed

Topics

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

Share to DNA Primers
Share to Hemochromatosis Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histocompatibility Antigens Class I

Share to Iron Metabolism Disorders

Share to Sensitivity and Specificity

Share to Serine Endopeptidases

Source

Identifiers

PMID: 21198378
DOI: 10.1089/gtmb.2010.0140

Genes

HFE
TMPRSS6

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 novel SNaPshot assay to detect genetic mutations related to iron metabolism.PMID 21198378Read ↗

Multiplex Snapshot minisequencing for the detection of common PAH gene mutations in Iranian patients with PhenylketonuriaSemantic proximity Read ↗

Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.Semantic proximity Read ↗

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing.Semantic proximity Read ↗

Global sequencing approach for characterizing the molecular background of hereditary iron disorders.Semantic proximity Read ↗

Minisequencing mitochondrial DNA pathogenic mutations.Semantic proximity Read ↗

A single multiplex PCR and SNaPshot minisequencing reaction of 42 SNPs to classify admixture populations into mitochondrial DNA haplogroups.Semantic proximity Read ↗

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.Semantic proximity Read ↗

A ferrofluid-based homogeneous assay for highly sensitive and selective detection of single-nucleotide polymorphisms.Semantic proximity Read ↗

Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations.Semantic proximity Read ↗

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.Semantic proximity Read ↗

SNaPshot for pharmacogenetics by minisequencing.Semantic proximity Read ↗

SNaPshot typing of mitochondrial DNA coding region variants.Semantic proximity Read ↗

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