Low-penetrance R92Q (p.Arg121Gln) mutation in the <i>TNFRSF1A</i> gene: the significance and variants of phenotypes. Successful experience with the interleukin-1 inhibitor canakinumab in a female patient, who is a carrier of R92Q mutation with a severe TRAPS phenotype
The paper is devoted to the assessment of the R92Q (p.Arg121Gln) mutation/polymorphism in the TNFRSF1A gene associated with the monogenic autoinflammatory disease – Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS). It gives data on the frequency of this gene in the general populat...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
IMA-PRESS LLC
2020-09-01
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| Series: | Современная ревматология |
| Subjects: | |
| Online Access: | https://mrj.ima-press.net/mrj/article/view/1057 |
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