A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation

A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation

Autoinflammatory disorders are characterized by dysregulated innate immune response, resulting in recurrent uncontrolled systemic inflammation and fever. Gain-of-function mutations in NLRC4 have been described to cause a range of autoinflammatory disorders. We report a twelve-year-old Malay girl wit...

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Bibliographic Details
Main Authors: Chear, Chai Teng, Nallusamy, Revathy, Canna, Scott W., Chan, Kwai Cheng, Baharin, Mohd Farid, Hishamshah, Munirah, Ghani, Hamidah, Ripen, Adiratna Mat, Bin Mohamad, Saharuddin
Format: Article
Published: Academic Press Inc Elsevier Science 2020
Subjects:
Q Science (General)
QH301 Biology
Online Access:http://eprints.um.edu.my/36911/
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Institution: Universiti Malaya

Internet

http://eprints.um.edu.my/36911/

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