Article
Clinical, pathological, and molecular correlates in ferroportin disease: a study of two novel mutations.
Journal of hepatology - 1 Oct 2008
Girelli Domenico, De Domenico Ivana, Bozzini Claudia, Campostrini Natascia, Busti Fabiana, Castagna Annalisa, Soriani Nadia, Cremonesi Laura, Ferrari Maurizio, Colombari Romano, McVey Ward Diane, Kaplan Jerry, Corrocher Roberto
Abstract excerpt
BACKGROUND/AIMS: Clinico-pathological manifestations of ferroportin (Fpn) disease (FD) are heterogeneous, with some patients presenting with iron overload predominantly in macrophages ("M" phenotype), others predominantly in hepatocytes ("H" phenotype). This appears to reflect functional heterogeneity of Fpn mutants, with loss-of-function generally resulting in the M type. METHODS: Two unrelated probands with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.