ArticleJournal of medical genetics1999
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
Article in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 92 citations in OpenAlex.
- Genetic findings in ten Ecuadorian patients with suspected Wilson's disease.Human genomics · 2026Article
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.Cells · 2024Review
- The Role of Copper Overload in Modulating Neuropsychiatric Symptoms.International journal of molecular sciences · 2024Review
- Early Onset of Wilson's Disease and Possible Role of Disease-Modifying Genes: A Case Report and Literature Review.Case reports in hepatology · 2024Article
- Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.Molecular genetics and metabolism reports · 2023Article
- Wilson's Disease-Genetic Puzzles with Diagnostic Implications.Diagnostics (Basel, Switzerland) · 2023Review
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- Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.Scientific reports · 2020Article
- ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.Human genetics · 2020Article
- Biochemical Markers for the Diagnosis and Monitoring of Wilson Disease.The Clinical biochemist. Reviews · 2019Review
- Genetics and epigenetic factors of Wilson disease.Annals of translational medicine · 2019Review
- High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.BMC medical genetics · 2018Article
- Genetic variation spectrum inMolecular genetics & genomic medicine · 2017Article
- The genetics of Wilson disease.Handbook of clinical neurology · 2017Review
- Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.Annals of general psychiatry · 2017Article
- Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.Gastroenterology research and practice · 2016Article
- Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.Hepatitis monthly · 2013Article
- Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.JIMD reports · 2012Article
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Authors and funding
15 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two of Spanish origin, were analysed and the mutation characterised in 84.5% of them. We found 50 different mutations of which 19 are novel, including three nonsense, one frameshift, and 15 missense mutations. The mutations detected were rare and mostly found in the compound heterozygous state together with other mutations and only rarely in homozygosity. Most of these mutations lie in the transmembrane and ATP binding loop regions. These data expand our knowledge of both the structure-function relationships of the WD protein and the molecular pathology of WD, thus improving our capability of prevention and genetic counselling.
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Identifiers
10544227PMC1734255W1540914548What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.