Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing

Open Access

Peer-reviewed

Research Article

Xiaoru Xia,

Affiliation Department of Rheumatology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
⨯
Caijun Dai,

Affiliation Department of Pneumology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
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Xiaochun Zhu,

Affiliation Department of Rheumatology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
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Qiumei Liao,

Affiliation Department of Rheumatology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
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Xu Luo,

Affiliation Department of Wounds and Burns, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
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Yangyang Fu,

Affiliation Department of Pneumology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
⨯
Liangxing Wang

* E-mail: wzyxywlx@163.com

Affiliation Department of Pneumology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
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Nonsense mutation
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Fevers
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Mutation
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Protein domains
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Mutation databases
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Mutation detection
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Frameshift mutation
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Gene sequencing
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