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Article

Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever.

Modern rheumatology - 1 Feb 2012

Tone Yumi, Toma Tomoko, Toga Akiko, Sakakibara Yasuhisa, Wada Taizo, Yabe Masahiro, Kusafuka Hiromitu, Yachie Akihiro

Abstract excerpt

Most reported cases of familial Mediterranean fever (FMF) involve missense mutations of MEFV concentrated within exon 10. We experienced two independent pedigrees of a unique variant in the MEFV gene that might cause excessive exon 2 skipping due to enhanced alternative splicing. In this study, we tried to elucidate the molecular mechanism of the MEFV variant as a cause of the FMF phenotype. Peripheral blood was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21562927
DOI: 10.1007/s10165-011-0461-4

Genes

MEFV

Variants

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