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Open Access 01-11-2013 | Meeting abstract

PW01-004 – The sequence analysis in E148Q homozygous patients

Authors: R Topaloglu, C Yildiz, E Taskiran, E Korkmaz, N Besbas, S Ozen, A Duzova, N Akarsu, F Ozaltin

Published in: Pediatric Rheumatology | Special Issue 1/2013

Excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disease associated with a number of mutations of the MEFV gene. To date 246 variants responsible for the disease were identified, one such a variant is E148Q in exon 2. The role of E148Q variant in the development of FMF remains inconclusive. Some authors believe it causes the disease, whereas others favor the concept of a non causative role. …

Title: PW01-004 – The sequence analysis in E148Q homozygous patients
Authors: R Topaloglu
C Yildiz
E Taskiran
E Korkmaz
N Besbas
S Ozen
A Duzova
N Akarsu
F Ozaltin
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-A57

At a glance: The STEP trials

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PW01-004 – The sequence analysis in E148Q homozygous patients

Excerpt

At a glance: The STEP trials

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Excerpt

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