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Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

PW01-024 – Phenotypic analysis of a MEFV negative FMF cohort

Authors: A Soriano, D Rigante, L Cerrito, C Fonnesu, L Sicignano, A Gallegos, R Manna

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on the chromosome 16. It is the most frequent periodic febrile syndrome among autoinflammatory syndromes. Eighty % of patients with FMF have MEFV mutations, while around 20% do not have mutations. …
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go back to reference Manna R, Cerquaglia C, Curigliano V, Fonnesu C, Giovinale M, Verrecchia E, Montalto M, De Socio G, Soriano A, La Regina M, Gasbarrini G: Clinical features of familial Mediterranean fever: an Italian overview. Eur Rev Med Pharmacol Sci. 2009, 13 (Suppl 1): 51-3.PubMed Manna R, Cerquaglia C, Curigliano V, Fonnesu C, Giovinale M, Verrecchia E, Montalto M, De Socio G, Soriano A, La Regina M, Gasbarrini G: Clinical features of familial Mediterranean fever: an Italian overview. Eur Rev Med Pharmacol Sci. 2009, 13 (Suppl 1): 51-3.PubMed
Metadata
Title
PW01-024 – Phenotypic analysis of a MEFV negative FMF cohort
Authors
A Soriano
D Rigante
L Cerrito
C Fonnesu
L Sicignano
A Gallegos
R Manna
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-A77

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