| 概要 |
Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) is an autosomal recessive immunologic disorder caused by mutations in actin-regulatory gene WDR1. WDR1 is a WD40 repeat protein that interacts with cofilin to promote F-actin severing and depolymerization.
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| 著者 |
Standing AS, Malinova D, Hong Y, Record J, Moulding D, Blundell MP, Nowak K, Jones H, Omoyinmi E, Gilmour KC, Medlar A, Stanescu H, Kleta R, Anderson G, Nanthapisal S, Gomes SM, Klein N, Eleftheriou D, Thrasher AJ, Brogan PA |
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| 著者 |
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N |
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