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Article

Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?

Gene - 30 Jan 2018

Procopio V, Manti S, Bianco G, Conti G, Romeo A, Maimone F, Arrigo T, Cutrupi M C, Salpietro C, Cuppari C

Abstract excerpt

BACKGROUND: Uncertainty remains on the pathogenetic mechanisms, model of inheritance as well as genotype-phenotype correlation of FMF disease. OBJECTIVE: To investigate the impact of genetic factors on the FMF phenotype and the disease inheritance model. METHODS: A total of 107 FMF patients were enrolled. Patients were diagnosed clinically. All patients underwent genetic analysis of the FMF locus on 16p13.3....

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PMID: 29080837
DOI: 10.1016/j.gene.2017.10.068

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