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

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

Journal of pediatric gastroenterology and nutrition - 1 Sept 2008

Zappu Antonietta, Magli Olympia, Lepori Maria Barbara, Dessì Valentina, Diana Stefania, Incollu Simona, Kanavakis Emmanuel, Nicolaidou Polyxeni, Manolaki Nina, Fretzayas Andreas, De Virgiliis Stefano, Cao Antonio, Loudianos Georgios

Abstract excerpt

OBJECTIVES: Herein we report the results of mutation-based screening for Wilson disease (WD) in 2 isolated populations of Sardinia and the Greek island of Kalymnos. PATIENTS AND METHODS: Mutation analysis was performed in 110 and 9 WD families originating respectively from Sardinia and Kalymons using single-strand conformation polymorphism and sequencing methods. In Sardinia, a limited screening was performed for...

Read the complete abstract on PubMed

Topics

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

Share to Ceruloplasmin
Share to Copper

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Greece

Share to Hepatolenticular Degeneration

Share to Neonatal Screening

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 18728530
DOI: 10.1097/MPG.0b013e31817094f6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.PMID 18728530Read ↗

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.Semantic proximity Read ↗

Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population.Semantic proximity Read ↗

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian populationSemantic proximity Read ↗

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

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.Semantic proximity Read ↗

The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center.Semantic proximity Read ↗

Wilson's disease in two consecutive generations in a Bulgarian Roma family.Semantic proximity Read ↗

Distribution of patients with Wilson disease carrying the H1069Q mutation in Austria.Semantic proximity Read ↗

Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease.Semantic proximity Read ↗

High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.Semantic proximity Read ↗

Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.Semantic proximity Read ↗

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.Semantic proximity Read ↗

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