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E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever

Background: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest...

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Detalhes bibliográficos
Main Authors: Topaloglu, R, Ozaltin, F, Yilmaz, E, Ozen, S, Balci, B, Besbas, N, Bakkaloglu, A
Formato: Artigo
Idioma:Inglês
Publicado em: 2005
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1755471/
https://ncbi.nlm.nih.gov/pubmed/15458961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/ard.2004.026963
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