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

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

Blood cells, molecules & diseases - 1 Oct 2016

Faria Ricardo, Silva Bruno, Silva Catarina, Loureiro Pedro, Queiroz Ana, Fraga Sofia, Esteves Jorge, Mendes Diana, Fleming Rita, Vieira Luís, Gonçalves João, Faustino Paula

Abstract excerpt

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation...

Read the complete abstract on PubMed

Topics

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

Share to Hemochromatosis
Share to Hemochromatosis Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hepcidins

Share to High-Throughput Nucleotide Sequencing

Share to Iron Metabolism Disorders

Share to Mutation

Share to Portugal

Share to Receptors, Transferrin

Source

Identifiers

PMID: 27667161
DOI: 10.1016/j.bcmd.2016.07.004

Genes

HFE
HAMP
TFR2
FTL
HJV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.PMID 27667161Read ↗

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.Semantic proximity Read ↗

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.Semantic proximity Read ↗

Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.Semantic proximity Read ↗

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.Semantic proximity Read ↗

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.Semantic proximity Read ↗

Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.Semantic proximity Read ↗

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

EASL clinical practice guidelines for HFE hemochromatosis.Semantic proximity Read ↗

HFE and Non-HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience.Semantic proximity Read ↗

Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.Semantic proximity Read ↗

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.Semantic proximity Read ↗

TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.Semantic proximity Read ↗

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