Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
S. Keskitalo, E. Haapaniemi, E. Einarsdottir, K. Rajamaki, H. Heikkila, M. Ilander, M. Poyhonen, E. Morgunova, K. Hokynar, S. Lagstrom, S. Kivirikko, S. Mustjoki, K. Eklund, J. Saarela, J. Kere, , M. Varjosalo
The paper reports a novel gain-of-function TMEM173 mutation and its additive effects with IFIH1 risk allele on clinical phenotype in a multigeneration family.
bioRxiv · Aug 17, 2018Immunology