Nalaganje...
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...
Shranjeno v:
| Main Authors: | , , , , |
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| Format: | Artigo |
| Jezik: | Russo |
| Izdano: |
IMA-PRESS LLC
2020-09-01
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| Serija: | Современная ревматология |
| Teme: | |
| Online dostop: | https://mrj.ima-press.net/mrj/article/view/1057 |
| Oznake: |
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