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 in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver - 1 Apr 2013

Loudianos Georgios, Zappu Antonietta, Lepori Maria Barbara, Incollu Simona, Dessì Valentina, Mameli Eva, Garrucciu Giovanni, De Virgiliis Stefano, Cao Antonio

Abstract excerpt

BACKGROUND: Wilson's disease diagnosis is still a challenge for clinicians. AIM: To underline the importance of genetic testing in carrier detection and diagnosis of atypical Wilson's disease cases. METHODS: Two families with Wilson's disease in two consecutive generations were analysed with clinical, biochemical and genetic testing. RESULTS: In one family with triplet siblings, two of whom monozygotic, molecular...

Topics

Join the communities discussing this publication.

Alanine Transaminase
Aspartate Aminotransferases
Cation Transport Proteins
Ceruloplasmin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Copper-Transporting ATPases

Genetic Carrier Screening

Hepatolenticular Degeneration

Source

Identifiers

PMID: 23219664
DOI: 10.1016/j.dld.2012.10.017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

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

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.PMID 23219664Read ↗

Haplotype and mutation analysis in Greek patients with Wilson disease.Semantic proximity Read ↗

Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.Semantic proximity Read ↗

Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.Semantic proximity Read ↗

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

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

From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia.Semantic proximity Read ↗

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

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.Semantic proximity Read ↗

High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.Semantic proximity Read ↗

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.Semantic proximity Read ↗

Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.Semantic proximity Read ↗

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

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