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

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Vision-threatening bilateral panuveitis and TRAPS in a child: an uncommon association.

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Q48095933-25FE2827-1BDD-4F01-B151-08014823BFBD

P2860

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

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

Clinical dose effect and funct ...... a TRAPS/PFAPA-like phenotype.

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Clinical dose effect and funct ...... a TRAPS/PFAPA-like phenotype.

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Clinical dose effect and funct ...... a TRAPS/PFAPA-like phenotype.

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P1476

Clinical dose effect and funct ...... h a TRAPS/PFAPA-like phenotype

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Cécile Rittore

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Gaël Guyon

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Jérôme Pène

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Marie-Caroline Chastang

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Pascal Pillet

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Sylvie Grandemange

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Sébastien Cabasson

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P2860

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome.

The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene

The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway

Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene

CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease

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Novel markers of inflammation identified in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) by transcriptomic analysis of effects of TRAPS-associated tumor necrosis factor receptor type I mutations in an endothelial cell line.

Different presentations in patients with tumor necrosis factor receptor-associated periodic syndrome mutations: report of two cases.

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110-116

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scholarly article

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10.1002/MGG3.229

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Guillaume Sarrabay

Isabelle Touitou

Elodie Sanchez

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2017-01-14T00:00:00Z

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28361096

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5370222

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

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P2860

P2860

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

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P1476

P2093

P2860

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P1476

P2093

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P31

P356

P433

P478

P50

P577

P698

P932