@Article{Raszeja-Wyszomirska2014,
journal="Gastroenterology Review/Przegląd Gastroenterologiczny",
issn="1895-5770",
volume="9",
number="5",
year="2014",
title="Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene",
abstract="In this paper we described the first Polish patient with ferroportin disease. Hereditary haemochromatosis (HH) is a condition associated with universal iron overload, and it is divided into four types, according to the Online Mendelian Inheritance in Man (OMIM) database. Ferroportin disease represented a rare type of HH, with autosomal dominant trait of inheritance. In our patient we detected a novel mutation in the ferroportin gene, with non-classical phenotype.",
author="Raszeja-Wyszomirska, Joanna
and Caleffi, Angela
and Milkiewicz, Piotr
and Pietrangelo, Antonello",
pages="307--309",
doi="10.5114/pg.2014.46167",
url="http://dx.doi.org/10.5114/pg.2014.46167"
}