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Open Access 01-11-2013 | Meeting abstract

P02-014 - Consequences of Arginine 92 mutations in TNFR1

Authors: I Jéru, S Charmion, E Cochet, B Copin, G Le Borgne, P Cathebras, J Gaillat, P Duquesnoy, S Karabina, V Hentgen, S Amselem

Published in: Pediatric Rheumatology | Special Issue 1/2013

Excerpt

TNFRSF1A is involved in a Mendelian autosomal dominant autoinflammatory disorder called TNFR-associated periodic syndrome (TRAPS). Most TNFRSF1A mutations are missense changes and, apart from those affecting conserved cysteines, their deleterious effect remains often questionable. This is especially true for the frequent R92Q mutation, which might not be responsible for TRAPS per se but represents a susceptibility factor to multifactorial inflammatory disorders. …

Title: P02-014 - Consequences of Arginine 92 mutations in TNFR1
Authors: I Jéru
S Charmion
E Cochet
B Copin
G Le Borgne
P Cathebras
J Gaillat
P Duquesnoy
S Karabina
V Hentgen
S Amselem
Publication date: 01-11-2013
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/1546-0096-11-S1-A121

Keynote webinar | Spotlight on medication adherence

Springer Medicine

P02-014 - Consequences of Arginine 92 mutations in TNFR1

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

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