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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Einstein (Sao Paulo)
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2017
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5875167/
https://ncbi.nlm.nih.gov/pubmed/28746593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1679-45082017RC4006
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