p.RQ92 mutation associated with amyloidosis

Author:

Nicolás-Sánchez Francisco José,Aróstegui-Gorospe Juan Ignacio,Pallarés-Quixal Judit,Nicolás-Sarrat Francesc Josep,Sarrat-Nuevo Rosa María,Bou Ramon María Nogue,Melgarejo-Moreno Pablo José

Publisher

Elsevier BV

Reference8 articles.

1. The autoinflammatory disease;Federici;Swiss Med Wkly,2012

2. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry;Lachmann;Ann Rheum Dis,2014

3. Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting with refractory chronic arthritis;Lopalco;Clin Exp Rheumatol,2015

4. Disease phenotype and outcome depending on the age at disease onset in patients carrying the R92Q low-penetrance variant in TNFRSF1A gene;Ruiz-Ortiz;Front Immunol,2017

5. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene;Ravet;Ann Rheum Dis,2006

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