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

Molecular diagnosis of Wilson disease.

Molecular genetics and metabolism - 1 Mar 2001

Butler P, McIntyre N, Mistry P K

Abstract excerpt

Wilson disease (WD) is caused by mutations in the ATP7B gene. The diagnosis is based on clinical and biochemical criteria but these are increasingly recognized to have low sensitivity. Genetic diagnosis is considered impractical due to the large coding region of the ATP7B gene and extreme diversi...

Read the complete abstract on PubMed

Topics

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

Share to Polymorphism, Single-Stranded Conformational
Share to Adenosine Triphosphatases
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cation Transport Proteins

Share to Copper-Transporting ATPases

Share to Ethnicity

Share to Hepatolenticular Degeneration

Share to Heterozygote

Source

Identifiers

PMID: 11243728
DOI: 10.1006/mgme.2000.3143

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11243728-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular diagnosis of Wilson disease.PMID 11243728Read ↗

Clinical molecular diagnosis of Wilson disease.Semantic proximity Read ↗

Wilson's Disease.Semantic proximity Read ↗

A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations.Semantic proximity Read ↗

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.Semantic proximity Read ↗

The genetics of Wilson disease.Semantic proximity Read ↗

ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.Semantic proximity Read ↗

[Advances in the molecular diagnosis of Wilson's disease].Semantic proximity Read ↗

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.Semantic proximity Read ↗

Direct diagnosis of Wilson disease by molecular genetics.Semantic proximity Read ↗

A study of Wilson disease mutations in Britain.Semantic proximity Read ↗

Wilson disease.Semantic proximity Read ↗

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

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