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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.
Dahlqvist J, Klar J, Tiwari N, Schuster J, Törmä H, Badhai J, Pujol R, van Steensel MA, Brinkhuizen T, Gijezen L, Chaves A, Tadini G, Vahlquist A, Dahl N. Dahlqvist J, et al. Among authors: vahlquist a. Am J Hum Genet. 2010 Apr 9;86(4):596-603. doi: 10.1016/j.ajhg.2010.02.018. Epub 2010 Mar 11. Am J Hum Genet. 2010. PMID: 20226437 Free PMC article.
Ichthyosis: A Road Model for Skin Research.
Vahlquist A, Törmä H. Vahlquist A, et al. Acta Derm Venereol. 2020 Mar 25;100(7):adv00097. doi: 10.2340/00015555-3433. Acta Derm Venereol. 2020. PMID: 32147743 Free PMC article. Review.
206 results