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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, AndVolume:
86
Year:
2010
Language:
english
Pages:
8
DOI:
10.1016/j.ajhg.2010.02.018
File:
PDF, 630 KB
english, 2010