Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
This study was supported by the Ghent University Special Research Fund (BOF15/GOA/011) to E.D.B. and grant SAF2015-70412-R from Spanish Secretary of Research, Development and Innovation (MINECO), grant 2014 SGR225 (GRE, Grup Rercerca Emergent) from Generalitat de Catalunya and economical support fro...
| Autores: | , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2017 |
| 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:20.500.12328/3074 |
| Acceso en línea: | http://hdl.handle.net/20.500.12328/3074 http://www.dx.doi.org/10.1038/s41598-017-18326-6 |
| Access Level: | acceso abierto |
| Palabra clave: | Síndrome d'hiperferritinèmia-cataracta hereditària Mutacions Mutacions heterozigotes Síndrome de hiperferritinemia-cataracta hereditaria Mutaciones Mutaciones heterocigotas Hereditary hyperferritinemia-cataract syndrome Mutations Heterozygous mutations 57 |
| Sumario: | This study was supported by the Ghent University Special Research Fund (BOF15/GOA/011) to E.D.B. and grant SAF2015-70412-R from Spanish Secretary of Research, Development and Innovation (MINECO), grant 2014 SGR225 (GRE, Grup Rercerca Emergent) from Generalitat de Catalunya and economical support from Fundació Internacional Josep Carreras and from Obra Social “la Caixa” Spain to M.S. S.V.d.S. is PhD fellow of the BOF (01D04716). E.D.B. is Senior Clinical Investigator of the FWO (1802215N). Te authors gratefully acknowledge the family who participated in this study. |
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