Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features

• Main Authors: L. Tom Vlasveld (Author), Roel Janssen (Author), Edouard Bardou-Jacquet (Author), Hanka Venselaar (Author), Houda Hamdi-Roze (Author), Hal Drakesmith (Author), Dorine W. Swinkels (Author)
• 格式: 圖書
• 出版: MDPI AG, 2019-09-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Iron overloading disorders linked to mutations in ferroportin have diverse phenotypes in vivo, and the effects of mutations on ferroportin in vitro range from loss of function (LOF) to gain of function (GOF) with hepcidin resistance. We reviewed 359 patients with 60 ferroportin variants. Overall, ma...