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

ABSTRACT 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 develo...

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Access type:openAccess
Publication Date:2017
Main Author: Petroni,Roberta Cardoso
Other Authors: Rosa,Susana Elaine Alves da, Carvalho,Flavia Pereira de, Santana,Rúbia Anita Ferraz, Hyppolito,Joyce Esteves, Nascimento,Claudia Mac Donald Bley, Hamerschlak,Nelson, Campregher,Paulo Vidal
Document type: Report
Language:eng
Published: Instituto Israelita de Ensino e Pesquisa Albert Einstein
Portuguese subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082017000400492
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