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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Detalles Bibliográficos
Autores principales: Vlasveld, L. Tom, Janssen, Roel, Bardou-Jacquet, Edouard, Venselaar, Hanka, Hamdi-Roze, Houda, Drakesmith, Hal, Swinkels, Dorine W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789780/
https://www.ncbi.nlm.nih.gov/pubmed/31505869
http://dx.doi.org/10.3390/ph12030132

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789780/
https://www.ncbi.nlm.nih.gov/pubmed/31505869
http://dx.doi.org/10.3390/ph12030132

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