Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in aicardi-Goutières syndrome

Yanick Crow, Gillian I. Rice, Martin A M Reijns, Stephanie R. Coffin, Gabriella M A Forte, Beverley Anderson, Marcin Szynkiewicz, Hannah Gornall, David Gent, Andrea Leitch, Maria P. Botella, Elisa Fazzi, Blanca Gener, Lieven Lagae, Ivana Olivieri, Simona Orcesi, Kathryn J. Swoboda, Fred W. Perrino, Andrew P. Jackson, Yanick J. Crow

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    Immunology and Microbiology

    Biochemistry, Genetics and Molecular Biology