Blar i St. Olavs hospital på forfatter "Naehrlich, Lutz"

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    • Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood 

      Hengst, Meike; Naehrlich, Lutz; Mahavadi, Poornima; Grosse-Onnebrink, Joerg; Terheggen-Lagro, Suzanne; Skanke, Lars Høsøien; Schuch, Luise A; Brasch, Frank; Guenther, Andreas; Reu, Simone; Ley-Zaporozhan, Julia; Griese, Matthias (Peer reviewed; Journal article, 2018)
      Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence ...