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

Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.

Physiological research - 1 Jan 2006

Frank J, Poblete-Gutiérrez P, Weiskirchen R, Gressner O, Merk H F, Lammert F

Abstract excerpt

Patients with porphyria cutanea tarda (PCT) reveal a susceptibility to reversible inactivation of hepatic uroporphyrinogen decarboxylase, which might be triggered by alcohol, hepatitis C virus infection, and iron overload. Inherited factors that may predispose to clinically overt PCT also include sequence deviations in the HFE gene that is mutated in classical hemochromatosis. Here, we studied the prevalence of...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Germany
Share to Hemochromatosis Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histocompatibility Antigens Class I

Share to Membrane Proteins

Share to Porphyria Cutanea Tarda

Share to Receptors, Transferrin

Share to Temperature

Source

Identifiers

PMID: 17298224
DOI: 10.33549/physiolres.930000.55.S2.75

Genes

HFE
TFR2

Variants

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

Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.PMID 17298224Read ↗

C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.Semantic proximity Read ↗

High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda.Semantic proximity Read ↗

HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.Semantic proximity Read ↗

Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).Semantic proximity Read ↗

High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic.Semantic proximity Read ↗

Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.Semantic proximity Read ↗

Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients.Semantic proximity Read ↗

Iron overload in porphyria cutanea tarda.Semantic proximity Read ↗

Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda.Semantic proximity Read ↗

Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.Semantic proximity Read ↗

Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.Semantic proximity Read ↗

Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France.Semantic proximity Read ↗

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