ArticleAmerican journal of human genetics1994
Haplotype studies in Wilson disease.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 48 citations in OpenAlex.
- Prevalent Pathogenic Variants ofGenes · 2021Article
- 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
- ACP Best Practice No 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring.Journal of clinical pathology · 2000Review
- Carrier detection and presymptomatic identification of Wilson disease in Chinese by non-isotopic linkage analysis with four short tandem repeat polymorphisms.Journal of Tongji Medical University = Tong ji yi ke da xue xue bao · 1999Article
- 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
- Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.American journal of human genetics · 1995Article
- Haplotypes and mutations in Wilson disease.American journal of human genetics · 1995Article
- Wilson disease in Iceland: a clinical and genetic study.American journal of human genetics · 1995Article
- Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.American journal of human genetics · 1995Article
- Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.American journal of human genetics · 1994Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 51 families with Wilson disease, we have studied DNA haplotypes of dinucleotide repeat polymorphisms (CA repeats) in the 13q14.3 region, to examine these markers for association with the Wilson disease gene (WND). In addition to a marker (D13S133) described elsewhere, we have developed three new highly polymorphic markers (D13S314, D13S315, and D13S316) close to the WND locus. We have examined the distribution of marker alleles at the loci studied and have found that D13S314, D13S133, and D13S316 each show nonrandom distribution on chromosomes carrying the WND mutation. We have studied haplotypes of these three markers and have found that there are highly significant differences between WND and normal haplotypes in northern European families. These findings have important implications for mutation detection and molecular diagnosis in families with Wilson disease.
Indexed as
Identifiers
8279472PMC1918068W1491415939What 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.