Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral catarac...

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Detalles Bibliográficos
Autores principales: Petroni, Roberta Cardoso, da Rosa, Susana Elaine Alves, de Carvalho, Flavia Pereira, Santana, Rúbia Anita Ferraz, Hyppolito, Joyce Esteves, Nascimento, Claudia Mac Donald Bley, Hamerschlak, Nelson, Campregher, Paulo Vidal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5875167/
https://www.ncbi.nlm.nih.gov/pubmed/28746593
http://dx.doi.org/10.1590/S1679-45082017RC4006

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