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

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...

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Bibliographic Details
Published in:Pharmaceuticals (Basel)
Main Authors: Vlasveld, L. Tom, Janssen, Roel, Bardou-Jacquet, Edouard, Venselaar, Hanka, Hamdi-Roze, Houda, Drakesmith, Hal, Swinkels, Dorine W.
Format: Artigo
Language:Inglês
Published: MDPI 2019
Subjects:
Review
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6789780/
https://ncbi.nlm.nih.gov/pubmed/31505869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ph12030132
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