Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome

Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare disorder usually caused by heterozygous mutations in the iron-responsive element (IRE) in the 5′ untranslated region (5′UTR) of the L-ferritin gene (FTL), disturbing the binding of iron regulatory proteins (IRPs) and the post-transcrip...

Descripción completa

Detalles Bibliográficos
Autores principales: Van de Sompele, Stijn, Pécheux, Lucie, Couso, Jorge, Meunier, Audrey, Sanchez, Mayka, De Baere, Elfride
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740175/
https://www.ncbi.nlm.nih.gov/pubmed/29269865
http://dx.doi.org/10.1038/s41598-017-18326-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740175/
https://www.ncbi.nlm.nih.gov/pubmed/29269865
http://dx.doi.org/10.1038/s41598-017-18326-6

Ejemplares similares