New mutations in HFE2 and TFR2 genes causing non HFE-related hereditary hemochromatosis

This study was supported by the grant RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU) from the Spanish Ministry of Science and Innovation (MICINN) to M.S. G.H. is supported by funds provided by the APU and ADISCON Patient associations. X.F.-C. is partially supported by funds provided by the grant RTI-201...

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Detalles Bibliográficos
Autores: Hernández, Gonzalo, Ferrer, Xènia, Venturi, Veronica, Musri, Melina, Floor Pilquil, Martin, Muñoz-Torres, Pau Marc, Hernandez Rodríguez, Ines, Ruiz Mínguez, M. Angels, KELLEHER, NICHOLAS, Pelucchi, Sara, Piperno, Alberto, Plensa Alberca, Esther, Gener-Ricos, Georgina, Cañamero Giró, Eloi, Pérez-Montero, Santiago, Tornador, Cristian, Villà-Freixa, Jordi, Sanchez-Fernandez, Mayka
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:20.500.12328/3066
Acceso en línea:http://hdl.handle.net/20.500.12328/3066
https://dx.doi.org/10.3390/genes12121980
Access Level:acceso abierto
Palabra clave:Hemocromatosi hereditària
Hemocromatosi hereditària relacionada amb HFE
Sobrecàrrega de ferro
Gen TFR2
Gen HFE2
Mutacions
Hemocromatosi hereditària no relacionada amb HFE
Hemocromatosis hereditaria
Hemocromatosis hereditaria relacionada con HFE
Sobrecarga de hierro
Mutaciones
Hemocromatosis hereditaria no relacionada con HFE
Hereditary hemochromatosis
Hereditary HFE-related hemochromatosis
Iron overload
TFR2 gene
HFE2 gene
Mutations
Hereditary hemochromatosis not related to HFE
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Descripción
Sumario:This study was supported by the grant RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU) from the Spanish Ministry of Science and Innovation (MICINN) to M.S. G.H. is supported by funds provided by the APU and ADISCON Patient associations. X.F.-C. is partially supported by funds provided by the grant RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU). V.V. is supported by funds provided by APU and ADISCON patient associations and is currently supported by funds provided by UIC postdoctoral scholarship and by funds provided by RETOS COLABORACION grant RTC2019-007074-1 (MCI/AEI/FEDER, EU) from the Spanish Ministry of Science and Innovation (MICINN). The work by M.F.P., P.M.M.T. and J.V.-F. has been developed within the BIO2017-83650-P project, funded by the Spanish Subprograma Estatal de Generación del Conocimiento. M.M. is supported by a Marie Curie Fellowship grant from the European Commission.

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