Browsing Det medisinske fakultet by Author "Rajala, Hanna"

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  • Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease 
    Keskitalo, Salla; Haapaniemi, Emma M.; Glumoff, Virpi; Liu, Xiaonan; Lehtinen, Ville; Fogarty, Christopher; Rajala, Hanna; Chiang, Samuel C.; Mustjoki, Satu; Kovanen, Panu; Lohi, Jouko; Bryceson, Yenan; Seppänen, Mikko; Kere, Juha; Heiskanen, Kaarina; Varjosalo, Markku (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
    Mutations in several proteins functioning as endolysosomal components cause monogenic autoimmune diseases, of which pathogenesis is linked to increased endoplasmic reticulum stress, inefficient autophagy, and defective ...