Ferroportin mutations: a tale of two phenotypes

被引：5

作者：

Nemeth, E ^{[1
]}

机构：

[1] Univ Calif Los Angeles, Los Angeles, CA 90024 USA

来源：

BLOOD | 2005年 / 105卷 / 10期

关键词：

D O I：

10.1182/blood-2005-02-0771

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Ferroportin disease is becoming recognized as the most common form of hereditary iron overload after HFE hemochromatosis, but explanations for its autosomal dominant inheritance and heterogeneous clinical presentation have been elusive. Schimanski and colleagues provide the first glimpses of mechanistic understanding of this important clinical entity.

引用

页码：3763 / 3764

页数：2

共 5 条

[1] Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding [J].