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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Uloženo v:
Podrobná bibliografie
Vydáno v:Einstein (Sao Paulo)
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2017
Témata:
Case Report
On-line přístup: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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