ArticleAmerican journal of human genetics1996
Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 37 citations in OpenAlex.
- Clinical utility of genomic sequencing.Current opinion in pediatrics · 2019Review
- Detecting population growth, selection and inherited fertility from haplotypic data in humans.Genetics · 2003Article
- Molecular background of progressive myoclonus epilepsy.The EMBO journal · 2003Review
- Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping.American journal of human genetics · 1999Article
- Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Deficiency in protein L-isoaspartyl methyltransferase results in a fatal progressive epilepsy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1998Review
- Fine-scale genetic mapping based on linkage disequilibrium: theory and applications.American journal of human genetics · 1997Article
- Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.American journal of human genetics · 1997Article
- Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).American journal of human genetics · 1997Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has been hampered by the lack of physical and genetic mapping resolution. We here report the use of a recently constituted contig of cosmid, BAC, and P1 clones that allowed new polymorphic markers to be positioned. These were typed in 53 unrelated disease families from an isolated Finnish population in which a putative single ancestral EPM1 mutation has segregated for an estimated 100 generations. By thus exploiting historical recombinations in haplotype analysis, EPM1 could be assigned to the approximately 175-kb interval between the markers D21S2040 and D21S1259.
Indexed as
Identifiers
8651302PMC1915057W1859759876What 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.