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Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients
Author(s) -
Kirectepe A. K.,
Erdem G. Celikyapi,
Senturk N.,
Arisoy N.,
Hatemi G.,
Ozdogan H.,
Kasapcopur O.,
Tahir Turanli E.
Publication year - 2011
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2011.01015.x
Subject(s) - mefv , familial mediterranean fever , exon , pathogenesis , gene , genetics , biology , medicine , immunology , mutation , gene mutation , disease
Summary A defect in MEFV gene expression regulation has been implicated in familial Mediterranean fever (FMF) etiopathophysiology. Here we show significantly higher expression level in second exon lacking MEFV transcript in FMF patients compared with healthy controls ( P = 0.026). Our results also point out a possible role of exon 2 deleted MEFV transcript in FMF pathogenesis.