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The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
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2005 (English)In: Nat Genet, ISSN 1061-4036, Vol. 37, no 12, 1309-11 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2005. Vol. 37, no 12, 1309-11 p.
Keyword [en]
Finland, Gene Deletion, Guanine Nucleotide Exchange Factors/analysis/*genetics/metabolism, Heat-Shock Proteins/*metabolism, Humans, Molecular Chaperones/*metabolism, Muscle; Skeletal/chemistry, Mutation, Protein Folding, Proteins/*metabolism, Research Support; Non-U.S. Gov't, Spinocerebellar Degenerations/*genetics/*metabolism
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URN: urn:nbn:se:uu:diva-75849PubMedID: 16282978OAI: oai:DiVA.org:uu-75849DiVA: diva2:103760
Available from: 2007-04-19 Created: 2007-04-19 Last updated: 2011-01-11

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Kalimo, HannuEeg-Olofsson, Orvar

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Department of Genetics and PathologyDepartment of Women's and Children's Health

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