Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA‐like phenotype

BACKGROUND: TNF receptor‐associated syndrome (TRAPS) is a dominantly inherited autoinflammatory condition caused by mutations in the TNFRSF1A gene. The mechanism underlying the variable expressivity of the common variant R92Q (rs4149584; c.362G>A; p.Arg121Gln) is unclear and is of critical import...

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Detalles Bibliográficos
Autores principales: Grandemange, Sylvie, Cabasson, Sébastien, Sarrabay, Guillaume, Pène, Jérôme, Rittore, Cécile, Sanchez, Elodie, Chastang, Marie‐Caroline, Guyon, Gaël, Pillet, Pascal, Touitou, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370222/
https://www.ncbi.nlm.nih.gov/pubmed/28361096
http://dx.doi.org/10.1002/mgg3.229

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