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Mutations E688K and G569R within the NALP3 gene, associated with development of hereditary auto inflammatory disorders   
University of Skövde, School of Life Sciences.
2009 (English)Independent thesis Advanced level (degree of Master (One Year)), 20 credits / 30 HE creditsStudent thesis
Abstract [en]

Different mutations within the NALP3 gene are thought to be associated with development of several types of hereditary auto inflammatory disorders such as neonatal onset multisystem inflammatory disorder (NOMID) and muckle-wells syndrome (MWS). In this work two separate mutations E688K and G569R were supposed to be constructed by site-directed mutagenesis in the cloned wild type NALP3 genes and further expressed in bacterial and mammalian host cells for functional studies in protein -protein interaction models.

Place, publisher, year, edition, pages
2009. , 22 p.
Keyword [en]
Mutations, autoimmune disorders
National Category
Cell and Molecular Biology
Identifiers
URN: urn:nbn:se:his:diva-4246OAI: oai:DiVA.org:his-4246DiVA: diva2:328527
Presentation
(English)
Uppsok
Medicine
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Examiners
Available from: 2010-09-20 Created: 2010-07-05 Last updated: 2010-09-20Bibliographically approved

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fulltext(412 kB)827 downloads
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Fetah, Alija
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CiteExportLink to record
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Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf