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Article

Clinical evaluation of R202Q alteration of MEFV genes in Turkish children.

Clinical rheumatology - 1 Dec 2014

Comak Elif, Akman Sema, Koyun Mustafa, Dogan Cagla Serpil, Gokceoglu Arife Uslu, Arikan Yunus, Keser Ibrahim

Abstract excerpt

To date, over 200 alterations have been reported in Mediterranean fever (MEFV) genes, but it is not clear whether all these alterations are disease-causing mutations. This study aims to evaluate the clinical features of the children with R202Q alteration. The medical records of children with R202Q alteration were reviewed retrospectively. A total of 225 children, with 113 males, were included. Fifty-five patients...

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PMID: 24718488
DOI: 10.1007/s10067-014-2602-6

Genes

MEFV

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