Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors

Background & Aims. Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder characterized by severe early-onset iron overload, caused by mutations in hemojuvelin (HJV), hepcidin (HAMP), or a combination of genes regulating iron metabolism. Here we describe two JH cases associated wit...

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Autors principals:	Serena Pelusi, Raffaela Rametta, Claudia Della Corte, Riccardo Congia, Paola Dongiovanni, Edoardo A. Pulixi, Silvia Fargion, Anna L. Fracanzani, Valerio Nobili, Luca Valenti
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2014-09-01
Col·lecció:	Annals of Hepatology
Matèries:	Genetics Hereditary hemochromatosis Iron overload
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S1665268119312591
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