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

Wilson's disease: an old disease keeps its old secrets.

European journal of gastroenterology & hepatology - 1 Feb 2007

Durand François

Abstract excerpt

Wilson's disease is a rare condition characterized by a defect in biliary excretion of copper, due to a mutation of both alleles of "Wilson's disease" gene (ATP7b gene). Many different mutations have been identified in affected patients. Since the clinical presentation of the disease is highly heterogeneous, it has been suspected that this variability could be related to different phenotypes. In this paper,...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases
Share to Cation Transport Proteins
Share to Copper-Transporting ATPases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Hepatolenticular Degeneration

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 17272992
DOI: 10.1097/MEG.0b013e32800fef34

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Wilson's disease: an old disease keeps its old secrets.PMID 17272992Read ↗

Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.Semantic proximity Read ↗

[Wilson disease].Semantic proximity Read ↗

Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?Semantic proximity Read ↗

A Novel Mutation of ATP7B Gene in a Case of Wilson Disease.Semantic proximity Read ↗

Pearls & Oy-sters: Challenges and Controversies in Wilson Disease.Semantic proximity Read ↗

The genetics of Wilson disease.Semantic proximity Read ↗

Genetics of Wilsons disease.Semantic proximity Read ↗

Currently Clinical Views on Genetics of Wilson's Disease.Semantic proximity Read ↗

Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.Semantic proximity Read ↗

Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.Semantic proximity Read ↗

[Wilson disease: clinical and biological aspects].Semantic proximity Read ↗

Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.Semantic proximity Read ↗

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