C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.

doi:10.1007/s004280100401

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

Back to search

Article

C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.

Virchows Archiv : an international journal of pathology - 1 Jul 2001

Tannapfel A, Stölzel U, Köstler E, Melz S, Richter M, Keim V, Schuppan D, Wittekind C

Abstract excerpt

BACKGROUND AND AIMS: Patients with porphyria cutanea tarda (PCT) have a susceptibility to reversible inactivation of hepatocyte uroporphyrinogen decarboxylase, which can be triggered by alcohol, hepatitis C virus, and other agents. Inherited factors that may predispose to PCT include the C282Y mutation in the hemochromatosis (HFE) gene. METHODS: We analyzed the hemochromatosis mutations C282Y and H63D in liver...

Topics

DNA
DNA Mutational Analysis
DNA Primers
Female
Ferritins
Gene Frequency
Genotype
Germany
Hemochromatosis
Humans
Iron
Liver
Male
Middle Aged
Mutation
Polymerase Chain Reaction
Porphyria Cutanea Tarda
Reference Values

Source

Open in PubMed

Identifiers

PMID: 11499833
DOI: 10.1007/s004280100401

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics