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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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מידע ביבליוגרפי
Main Authors: Topaloglu, R, Ozaltin, F, Yilmaz, E, Ozen, S, Balci, B, Besbas, N, Bakkaloglu, A
פורמט: Artigo
שפה:Inglês
יצא לאור: 2005
נושאים:
גישה מקוונת: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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