ArticleAmerican journal of human genetics1995
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 141 citations in OpenAlex.
- The global prevalence of Wilson disease from next-generation sequencing data.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Epidemiology and economic burden of Wilson disease in France: A nationwide population-based study.Journal of inherited metabolic disease · 2025Article
- Secondary findings in 622 Turkish clinical exome sequencing data.Journal of human genetics · 2021Article
- Prevalent Pathogenic Variants ofGenes · 2021Article
- Genetics and epigenetic factors of Wilson disease.Annals of translational medicine · 2019Review
- Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.Journal of genetics · 2017Article
- Genetic variation spectrum inMolecular genetics & genomic medicine · 2017Article
- Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.Annals of general psychiatry · 2017Article
- The genetics of Wilson disease.Handbook of clinical neurology · 2017Review
- Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.World journal of gastroenterology · 2016Article
- Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis.The Indian journal of medical research · 2015Article
- Article
- Genetics of Wilson's disease: a clinical perspective.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2012Review
- Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.Journal of human genetics · 2012Article
- Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.Hepatitis monthly · 2011Article
- A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family.Sultan Qaboos University medical journal · 2011Article
- Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.International journal of Alzheimer's disease · 2011Article
- Brain MRI and SPECT in the diagnosis of early neurological involvement in Wilson's disease.European journal of nuclear medicine and molecular imaging · 2008Article
- Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.Journal of human genetics · 2008Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
We analyzed mutations and defined the chromosomal haplotype in 127 patients and Mediterranean descent who were affected by Wilson disease (WD), 39 Sardinians, 49 Italians, 33 Turks, and 6 Albanians. Haplotypes were derived by use of the microsatellite markers D13S301, D13S296, D13S297, and D13S298, which are linked to the WD locus. There were five common haplotypes in Sardinians, three in Italians, and two in Turks, which accounted for 85%, 32%, and 30% of the WD chromosomes, respectively. We identified 16 novel mutations: 8 frameshifts, 7 missense mutations, and 1 splicing defect. In addition, we detected the previously described mutations: 2302insC, 3404delC, Arg1320ter, Gly944-Ser, and His1070Gin. Of the new mutations detected. two, the 1515insT on haplotype I and 2464delC on haplotype XVI, accounted for 6% and 13%, respectively, of the mutations in WD chromosomes in the Sardinian population. Mutations H1070Q, 2302insC, and 2533delA represented 13%, 8%, and 8%, respectively, of the mutations in WD chromosomes in other Mediterranean populations. The remaining mutations were rare and limited to one or two patients from different populations. Thus, WD results from some frequent mutations and many rare defects.
Indexed as
Identifiers
8533760PMC1801406W154920348What 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.