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

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 develop bilatera...

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Bibliographic Details
Main Authors: Roberta Cardoso Petroni, Susana Elaine Alves da Rosa, Flavia Pereira de Carvalho, Rúbia Anita Ferraz Santana, Joyce Esteves Hyppolito, Claudia Mac Donald Bley Nascimento, Nelson Hamerschlak, Paulo Vidal Campregher
Format: Article
Language:English
Published: Instituto Israelita de Ensino e Pesquisa Albert Einstein
Series:Einstein (São Paulo)
Subjects:
Ferritins
Cataract
Point mutation
Genetics
Heredity
Case reports
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082017000400492&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082017000400492&lng=en&tlng=en

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