Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3

Hereditary hemochromatosis (HH) type 3 is an autosomal recessive disorder of iron metabolism characterized by excessive iron deposition in the liver and caused by mutations in the transferrin receptor 2 (TFR2) gene. Here, we describe three new HH type 3 Spanish families with four TFR2 mutations (p.G...

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Detalles Bibliográficos
Autores principales: Joshi, Ricky, Shvartsman, Maya, Morán, Erica, Lois, Sergi, Aranda, Jessica, Barqué, Anna, de la Cruz, Xavier, Bruguera, Miquel, Vagace, José Manuel, Gervasini, Guillermo, Sanz, Cristina, Sánchez, Mayka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444164/
https://www.ncbi.nlm.nih.gov/pubmed/26029709
http://dx.doi.org/10.1002/mgg3.136

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