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  • Anttonen, Anna-Kaisa (author)

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

  • Article/chapterEnglish2005

Publisher, publication year, extent ...

  • 2005
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-75849
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-75849URI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Subject headings and genre

  • 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

Added entries (persons, corporate bodies, meetings, titles ...)

  • Mahjneh, Ibrahim (author)
  • Hämäläinen, Riikka H (author)
  • Lagier-Tourenne, Clotilde (author)
  • Kopra, Outi (author)
  • Waris, Laura (author)
  • Anttonen, Mikko (author)
  • Joensuu, Tarja (author)
  • Kalimo, HannuUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)hakal227 (author)
  • Paetau, Anders (author)
  • Tranebjaerg, Lisbeth (author)
  • Chaigne, Denys (author)
  • Koenig, Michel (author)
  • Eeg-Olofsson, OrvarUppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten(Swepub:uu)orvareo (author)
  • Udd, Bjarne (author)
  • Somer, Mirja (author)
  • Somer, Hannu (author)
  • Lehesjoki, Anna-Elina (author)
  • Uppsala universitetInstitutionen för genetik och patologi (creator_code:org_t)

Related titles

  • In:Nat Genet37:12, s. 1309-111061-4036

Internet link

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  • Nat Genet (Search for host publication in LIBRIS)

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