ArticleAmerican journal of human genetics1995
Haplotypes and mutations in Wilson disease.
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 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 91 citations in OpenAlex.
- Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.Biomedicines · 2024Article
- Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review.Children (Basel, Switzerland) · 2022Article
- Prevalent Pathogenic Variants ofGenes · 2021Article
- A case of Wilson disease with the ATP7B mutation presenting movement disorders.Surgical neurology international · 2021Article
- Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.Scientific reports · 2020Article
- The genetics of Wilson disease.Handbook of clinical neurology · 2017Review
- A review and current perspective on Wilson disease.Journal of clinical and experimental hepatology · 2013Review
- Genetics of Wilson's disease: a clinical perspective.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2012Review
- Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.Pediatric gastroenterology, hepatology & nutrition · 2012Review
- Quality of Life and Psychiatric Symptoms in Wilson's Disease: the Relevance of Bipolar Disorders.Clinical practice and epidemiology in mental health : CP & EMH · 2012Article
- A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family.Sultan Qaboos University medical journal · 2011Article
- Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.BMC medical genetics · 2011Article
- Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.International journal of Alzheimer's disease · 2011Article
- 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
- Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.Human genetics · 2005Article
- Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families.American journal of human genetics · 2003Article
- Comparative study of biliary trace elements and clinical phenotypes in Wilson's disease.World journal of gastroenterology · 1997Article
- Haplotype and mutation analysis in Japanese patients with Wilson disease.American journal of human genetics · 1997Article
- Menkes disease: recent advances and new aspects.Journal of medical genetics · 1997Review
- Identification of point mutations in 41 unrelated patients affected with Menkes disease.American journal of human genetics · 1997Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease is a disorder of copper transport, resulting in neurological and hepatic damage due to copper toxicity. We have recently identified > 20 mutations in the copper-transporting ATPase defective in this disease. Given the difficulties of searching for mutations in a gene spanning > 80 kb of genomic DNA, haplotype data are important as a guide to mutation detection. Here we examine the haplotypes associated with specific mutations. We have extended previous studies of DNA haplotypes of dinucleotide-repeat polymorphisms (CA repeats) in the Wilson disease region to include an additional marker, in 58 families. These haplotypes, combining three markers (D13S314, D13S316, and D13S301), are usually specific for each different mutation, even though highly polymorphic CA repeat markers have been used. Haplotypes, as well as their accompanying mutations, differ between populations. In the patients whom we have studied, the haplotype data indicate that as many as 20 mutations may still be unidentified. The use of the haplotypes that we have identified provides an important guide for the identification of known mutations and can facilitate future mutation searches.
Indexed as
Identifiers
7762553PMC1801091W1587668020What 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.