Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent.
作者： V. Gerolami , G. Le Gac , L. Mercier , M. Nezri , J-L. Berge-Lefranc
关键词: Internal medicine 、 Early onset 、 Target organ 、 Endocrinology 、 Medicine 、 Genetics
摘要: Haemochromatosis (HC) refers to a group of inherited disorders iron metabolism characterized by progressive accumulation in parenchymal cells. If not recognized and treated, loading impairs the function target organs damages their structure. HC includes historical
haematologica.org
sci-hub.se 参考文章(0)