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

Autor: Petroni, Roberta Cardoso, 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

Publikováno v: Einstein (São Paulo), Issue: ahead, Published: 24 JUL 2017
einstein (São Paulo) v.15 n.4 2017
Einstein (São Paulo)
Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
instacron:IIEPAE
Einstein (São Paulo), Volume: 15, Issue: 4, Pages: 492-495, Published: 24 JUL 2017

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 ir

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4fd9cdcbab4ffad57e196908628e2d13
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082017005003105&lng=en&tlng=en

Stem Cell Transplantation (HSCT) in Patients with Autoimmune Disease (ADs). Results of a Single Center in Brazil.

Autor: Rodrigues, Morgani ^*, Ribeiro, Andreza Alice Feitosa ^*, Kutner, Jose Mauro, Assis, Reijane Alves de ^*, Nascimento, Claudia Mac Donald Bley ^*, Scheimberg, Morton Aaron ^*, Carneiro, Roberto ^*, Tilbery, Charles Peter ^*, Junior, Pedro Paulo Porto ^*, Hamerschlak, Nelson

Publikováno v: In Blood 20 November 2009 114(22):4360-4360