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Homozygosity for the E526V Mutation in Fibrinogen A Alpha-Chain Amyloidosis: The First Report

Systemic hereditary amyloidoses are autosomal dominant diseases associated with mutations in genes encoding ten different proteins. The clinical phenotype has implications on therapeutic approach, but it is commonly variable and largely dependent on the type of mutation. Except for rare cases involv...

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Bibliografiset tiedot
Päätekijät: Isabel Tavares, Luísa Lobato, Carlos Matos, Josefina Santos, Paul Moreira, Maria João Saraiva, António Castro Henriques
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Hindawi Limited 2015-01-01
Sarja:Case Reports in Nephrology
Linkit:http://dx.doi.org/10.1155/2015/919763
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