Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome. Ayaka Maeda , Naomi Tsuchida , Yuri Uchiyama , Nobuyuki Horita , Satoshi Kobayashi , Mitsumasa Kishimoto , Daisuke Kobayashi , Haruki Matsumoto , Tomoyuki Asano , Kiyoshi Migita , Ayaka Kato , Ichiro Mori , Hiroyuki Morita , Akihiro Matsubara , Yoshiaki Marumo , Yuji Ito , Tomoaki Machiyama , Tsuyoshi Shirai , Tomonori Ishii , Mari Kishibe , Yusuke Yoshida , Shintaro Hirata , Satoshi Akao , Akitsu Higuchi , Ryo Rokutanda , Ken Nagahata , Hiroki Takahashi , Koske Katsuo , Toshio Ohtani , Hiroshi Fujiwara , Hiromichi Nagano , Takashi Hosokawa , Takanori Ito , Yoichiro Haji , Hiroyuki Yamaguchi , Noboru Hagino , Toshimasa Shimizu , Tomohiro Koga , Atsushi Kawakami , Goichi Kageyama , Hiroshi Kobayashi , Akiko Aoki , Akinari Mizokami , Yoichi Takeuchi , Rena Motohashi , Hiroyuki Hagiyama , Masaki Itagane , Hiroyuki Teruya , Tomohiro Kato , Yuji Miyoshi , Takayasu Kise , Naoto Yokogawa , Takako Ishida , Naoki Umeda , Shuntaro Isogai , Taio Naniwa , Toru Yamabe , Kaori Uchino , Jo Kanasugi , Akiyoshi Takami , Yasushi Kondo , Kazunori Furuhashi , Koichi Saito , Shigeru Ohno , Daiga Kishimoto , Mari Yamamoto , Yoshiro Fujita , Yuichiro Fujieda , Sachiko Araki , Hiroshi Tsushima , Kyohei Misawa , Akira Katagiri , Takahiro Kobayashi , Kenichi Hashimoto , Takehiro Sone , Yukiko Hidaka , Hiroaki Ida , Ryuta Nishikomori , Hiroshi Doi , Katsumichi Fujimaki , Keiichi Akasaka , Masako Amano , Hidekazu Matsushima , Kaori Kashino , Hidenori Ohnishi , Yuki Miwa , Noriyuki Takahashi , Kaoru Takase-Minegishi , Ryusuke Yoshimi , Yohei Kirino , Hideaki Nakajima , Naomichi Matsumoto Rheumatology (Oxford, England)（2023）
摘要
Genetic screening with the combination of regular PCR and PNA-PCR detected somatic UBA1 variants with high sensitivity and specificity. Our scoring system could efficiently predict patients with UBA1 variants.
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clinical scoring system, syndrome
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