ACIAS1mutation in a Japanese girl with familial cold autoinflammatory syndrome
โ Scribed by Hirokazu Kanegane; Toshiko Itazawa; Megumu Saito; Ryuta Nishikomori; Teruhiko Makino; Tadamichi Shimizu; Yuichi Adachi; Tatsutoshi Nakahata; Toshio Miyawaki
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 152 KB
- Volume
- 167
- Category
- Article
- ISSN
- 0340-6997
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## Objective __NLRP12__ mutations have been described in patients affected with peculiar autoinflammatory symptoms. This study was undertaken to characterize __NLRP12__ mutations in patients with autoinflammatory syndromes, particularly a novel missense mutation, p.D294E, affecting a protein sequen
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