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
2016
ferroportin gene, next generation sequencing, iron disorders
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/948364
Citazioni
  • ???jsp.display-item.citation.pmc??? 5
  • Scopus 7
  • ???jsp.display-item.citation.isi??? 6
social impact