A report on an Italian patient with a severe iron overload phenotype in whom a careful clinical characterisation led to a diagnose of p.A69T nonclassical ferroportin disease through the combination of capture of technology with a next generation sequencing (NGS) platform
Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.
Badar, Sadaf;CAMPOSTRINI, Natascia;FERRARINI, Alberto;DELLEDONNE, Massimo;GIRELLI, Domenico;
2016-01-01
Abstract
A report on an Italian patient with a severe iron overload phenotype in whom a careful clinical characterisation led to a diagnose of p.A69T nonclassical ferroportin disease through the combination of capture of technology with a next generation sequencing (NGS) platform
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