The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population

The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population

The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from periphera...

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Bibliographic Details
Main Authors: Battal F, Silan F, Topaloğlu N, Aylanç H, Yıldırım Ş, Köksal Binnetoğlu F, Tekin M, Kaymaz N, Ozdemir O
Format: Article
Language:English
Published: Sciendo 2016-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
amyloidosis
children
familial mediterranean fever (fmf)
genotype-phenotype correlations
pathogenic variant
Online Access:https://doi.org/10.1515/bjmg-2016-0032

Internet

https://doi.org/10.1515/bjmg-2016-0032

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