ArticleAmerican journal of human genetics1994
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
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 10 papers.
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Who cites it
10 citing papers in PubMed, 34 citations in OpenAlex.
- The Finnish Disease Heritage III: the individual diseases.Human genetics · 2003Review
- Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.AJNR. American journal of neuroradiology · 2003Article
- Lysosomal transport disorders.Journal of inherited metabolic disease · 2000Review
- Brain involvement in Salla disease.AJNR. American journal of neuroradiology · 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
- Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.American journal of human genetics · 1996Article
- Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.Journal of medical genetics · 1996Article
- Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population.American journal of human genetics · 1995Article
- Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.American journal of human genetics · 1995Article
- Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.American journal of human genetics · 1995Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Salla disease (SD), or adult-type free sialic acid storage disease, is an autosomal recessive lysosomal storage disorder characterized by impaired transport of free sialic acid across the lysosomal membrane and severe psychomotor retardation. Random linkage analysis of a sample of 27 Finnish families allowed us to localize the SD locus to the long arm of chromosome 6. The highest lod score of 8.95 was obtained with a microsatellite marker of locus D6S286 at theta = .00. Evidence for linkage disequilibrium was observed between the SD locus and the alleles of three closely linked markers, suggesting that the length of the critical region for the SD locus is in the order of 190 kb.
Indexed as
Identifiers
8198127PMC1918202W1508260140What 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.