Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection
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- 作者：Yuri Kawasaki ; Hirotsugu Oda ; Jun Ito ; Akira Niwa ; Takayuki Tanaka ; Atsushi Hijikata ; Ryosuke Seki ; Ayako Nagahashi ; Mitsujiro Osawa ; Isao Asaka ; Akira Watanabe ; Shigeo Nishimata ; Tsuyoshi Shirai ; Hisashi Kawashima ; Osamu Ohara ; Tatsutoshi Nakahata ; Ryuta Nishikomori ; Toshio Heike and Megumu K. Saito
- 刊名：Arthritis & Rheumatism
- 出版年：2017
- 出版时间：February 2017
- 年：2017
- 卷：69
- 期：2
- 页码：447-459
- 全文大小：1003K
- ISSN：1529-0131
文摘
To elucidate the genetic background of a patient with neonatal-onset multisystem inflammatory disease (NOMID) with no NLRP3 mutation.