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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Balkan J Med Genet
Egile Nagusiak: Battal, F, Silan, F, Topaloğlu, N, Aylanç, H, Yıldırım, Ş, Köksal Binnetoğlu, F, Tekin, M, Kaymaz, N, Ozdemir, O
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: De Gruyter 2016
Gaiak:
Original Article
Sarrera elektronikoa: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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