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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Vydáno v:Balkan J Med Genet
Hlavní autoři: Battal, F, Silan, F, Topaloğlu, N, Aylanç, H, Yıldırım, Ş, Köksal Binnetoğlu, F, Tekin, M, Kaymaz, N, Ozdemir, O
Médium: Artigo
Jazyk:Inglês
Vydáno: De Gruyter 2016
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5343327/
https://ncbi.nlm.nih.gov/pubmed/28289585
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/bjmg-2016-0032
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