The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

Hemochromatosis type 4 is one of the most common causes of primary iron overload, after HFE-related hemochromatosis. It is an autosomal dominant disorder, primarily due to missense mutations in SLC40A1. This gene encodes ferroportin 1 (FPN1), which is the sole iron export protein reported in mammals...

Descripción completa

Detalles Bibliográficos
Autores principales: Ka, Chandran, Guellec, Julie, Pepermans, Xavier, Kannengiesser, Caroline, Ged, Cécile, Wuyts, Wim, Cassiman, David, de Ledinghen, Victor, Varet, Bruno, de Kerguenec, Caroline, Oudin, Claire, Gourlaouen, Isabelle, Lefebvre, Thibaud, Férec, Claude, Callebaut, Isabelle, Le Gac, Gérald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278975/
https://www.ncbi.nlm.nih.gov/pubmed/30002125
http://dx.doi.org/10.3324/haematol.2018.189845

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278975/
https://www.ncbi.nlm.nih.gov/pubmed/30002125
http://dx.doi.org/10.3324/haematol.2018.189845

Ejemplares similares