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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
De Gruyter
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343327/ https://www.ncbi.nlm.nih.gov/pubmed/28289585 http://dx.doi.org/10.1515/bjmg-2016-0032 |