Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases

This study was supported by the grant RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU) from Spanish Secretary of Research, Development and Innovation (MINECO) to M.S. F.C. held an FI-AGAUR predoctoral fellowship (2019FI-B00794) from Generalitat de Catalunya. G.H. is supported by funds provided by the APU...

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Detalles Bibliográficos
Autores: Celma Nos, Ferran, Hernández, Gonzalo, León Llorente, Consuelo, Hernandez-Rodriguez, Ines, Navarro-Almenzar, Begoña, Fuster, José Javier, Bermúdez Cortés, Mar, Pérez-Montero, Santiago, Tornador, Cristian, 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:20.500.12328/2997
Acceso en línea:http://hdl.handle.net/20.500.12328/2997
https://dx.doi.org/10.3390/ijms22115451
Access Level:acceso abierto
Palabra clave:Síndrome de cataracta d'hiperferritinèmia hereditària
HHCS
Ferritina sèrica
Gen FTL
Cataractes
Hiperferritinèmia
IRE
IRP
Síndrome de cataratas por hiperferritinemia hereditaria
Ferritina sérica
Cataratas hiperferritinemia
IRA
Hereditary hyperferritinemia cataract syndrome
Serum ferritin
FTL gene
Cataracts
Hyperferritinemia
61
617
Descripción
Sumario:This study was supported by the grant RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU) from Spanish Secretary of Research, Development and Innovation (MINECO) to M.S. F.C. held an FI-AGAUR predoctoral fellowship (2019FI-B00794) from Generalitat de Catalunya. 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).

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