A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

Johanna Dahlqvist, Joakim Klar, Neha Tiwari, Jens Schuster, Hans Törmä, Jitendra Badhai, Ramon Pujol, Maurice A M van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, Anders Vahlquist, Niklas Dahl

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Medicine & Life Sciences