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Open Access 01-11-2013 | Meeting abstract

PW01-032 – FMF-like state: genetic factors unrelated to MEFV

Authors: D Babikyan, I Jeru, B Copin, H Hayrapetyan, S Amselem, T Sarkisian

Published in: Pediatric Rheumatology | Special Issue 1/2013

Excerpt

FMF is considered an autosomal recessive autoinflammatory syndrome caused by single gene (MEFV) mutations. Recently, it has been known that also heterozygous mutation carriers can suffer from a mild or incomplete form of FMF, named FMF-like disease. Among Armenians, who have relatively high carrier rate of MEFV mutations, single mutation has been detected in about 1/5 of symptomatic cases. Thus, one cannot exclude the influence of other modifier genes and/or environmental factors which can contribute to the variable penetrance and to the phenotypic variability of FMF-like disease. …

Title: PW01-032 – FMF-like state: genetic factors unrelated to MEFV
Authors: D Babikyan
I Jeru
B Copin
H Hayrapetyan
S Amselem
T Sarkisian
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-A85

Keynote webinar | Spotlight on medication adherence

Springer Medicine

PW01-032 – FMF-like state: genetic factors unrelated to MEFV

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

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Other articles of this Special Issue 1/2013

PW01-033 – Phenotype – genotype in Armenian children with FMF

PW02-023 - Qualitative aspects of autoinflammatory diseases

OR5-002 – In vitro studies in Schnitzler’s syndrome

P01-043 – Comparative characteristic of FMF and FMF with HSP

P01-013 – Cochlear involvement in FMF

PW02-029 - Single cell fluorescent immunoassay of CINCA/NOMID