Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes (Q58246012)

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Simone Baldovino

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Edoardo Errichiello

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Giovanni B. Binello

4

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Giovanni G. Battaglia

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Gianna Mazzucco

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Dario Roccatello

Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.

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publication date

6 March 2013

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published in

Amyloid

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volume

20

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issue

2

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page(s)

122-126

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cites work

1 reference

https://api.crossref.org/works/10.3109%2F13506129.2013.775119

Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks

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The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers

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The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder

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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases

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

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Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis.

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The spectrum of Familial Mediterranean Fever (FMF) mutations

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Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

21 January 2018

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Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

21 January 2018

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Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness

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Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever

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Expression of serum amyloid A transcripts in human trophoblast and fetal-derived trophoblast-like choriocarcinoma cells

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