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 Torma, Jitendra Badhai, Ramon Pujol, Maurice A. M. van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, Anders Vahlquist, Niklas Dahl

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)596-603
JournalAmerican Journal of Human Genetics
Volume86
Issue number4
DOIs
Publication statusPublished - 9 Apr 2010

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