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Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

  • S Ammann
  • , A Schulz
  • , I Krageloh-Mann
  • , NM Dieckmann
  • , K Niethammer
  • , S Fuchs
  • , Katja-Martina Eckl
  • , R Plank
  • , R Werner
  • , J Altmuller
  • , H Thiele
  • , P Nurnberg
  • , J Bank
  • , A Strauss
  • , H von Bernuth
  • , U Zur Stadt
  • , S Grieve
  • , GM Griffiths
  • , K Lehmberg
  • , HC Hennies
    • S Ehl

Research output: Contribution to journal › Article (journal) › peer-review

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Immunology and Microbiology

Biochemistry, Genetics and Molecular Biology