ArticleAmerican journal of human genetics1995
Wilson disease in Iceland: a clinical and genetic study.
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 9 papers.
What it found
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Who cites it
9 citing papers in PubMed.
- The genetics of Wilson disease.Handbook of clinical neurology · 2017Review
- Wilson's disease: A review of what we have learned.World journal of hepatology · 2015Article
- Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.Journal of human genetics · 2012Article
- The bromodomain-containing gene BRD2 is regulated at transcription, splicing, and translation levels.Journal of cellular biochemistry · 2011Article
- Ceruloplasmin and superoxide dismutase (SOD1) in heterozygotes for Wilson disease: A case control study.Neuropsychiatric disease and treatment · 2009Article
- Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.Journal of medical genetics · 1999Article
- 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
- Haplotypes and mutations in Wilson disease.American journal of human genetics · 1995Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A survey of Wilson disease in Iceland has revealed two large kindreds with affected individuals. We have carried out studies of haplotypes of dinucleotide repeat polymorphisms (CA repeats) flanking the Wilson disease gene. The same mutation, a 7-bp deletion, is present in both families, and the clinical features are similar. The haplotype data and nature of the mutation support the existence of a founder chromosome carrying the mutation. This Icelandic mutation was not found in patients of Irish or Scottish origins, who could share some of the Icelandic ancestral genes. Although the protein function is predicted to be completely abolished by the deletion, predicting early-onset liver disease, we find that the patients present with later-onset neurological and psychiatric symptoms. We show that alternative splicing of the transcript in the region of the deletion could contribute to later onset, suggesting that alternative isoforms of the protein might have some functional significance.
Indexed as
Identifiers
7726170PMC1801449What 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.