Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?
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DOI: 10.1016/j.gene.2017.10.068
Abstract: 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.… read more here.
Keywords: phenotype; inheritance; genotype; met680ile ... See more keywords