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Search: id:"swepub:oai:DiVA.org:uu-77777" > Fatal congenital he...

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  • Burwinkel, Barbara (author)

Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the γ2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency

  • Article/chapterEnglish2005

Publisher, publication year, extent ...

  • The American Society of Human Genetics,2005
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-77777
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-77777URI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

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

Subject headings and genre

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

  • Scott, John W. (author)
  • Bührer, Christoph (author)
  • van Landeghem, Frank K. H. (author)
  • Cox, Gerald F. (author)
  • Wilson, Callum J. (author)
  • Hardie, D. Grahame (author)
  • Kilimann, Manfred W.Uppsala universitet,Institutionen för cell- och molekylärbiologi(Swepub:uu)makil021 (author)
  • Uppsala universitetInstitutionen för cell- och molekylärbiologi (creator_code:org_t)

Related titles

  • In:American Journal of Human Genetics: The American Society of Human Genetics76:6, s. 1034-10490002-92971537-6605

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