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Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

OR2-002 – The risk of FMF in MEFV heterozygotes

Authors: I Jéru, V Hentgen, E Cochet, P Duquesnoy, G Le Borgne, E Grimprel, K Stankovic Stojanovic, S Karabina, G Grateau, S Amselem

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. The observation of many heterozygous patients in whom a second mutated allele was excluded led to propose that heterozygosity could be causal; however, this might often be coincidental due to the very high rate of mutations in Mediterranean populations. …
Metadata
Title
OR2-002 – The risk of FMF in MEFV heterozygotes
Authors
I Jéru
V Hentgen
E Cochet
P Duquesnoy
G Le Borgne
E Grimprel
K Stankovic Stojanovic
S Karabina
G Grateau
S Amselem
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-A2

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