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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Detalles Bibliográficos
Autores principales: Tavares, Isabel, Lobato, Luísa, Matos, Carlos, Santos, Josefina, Moreira, Paul, Saraiva, Maria João, Castro Henriques, António
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4493303/
https://www.ncbi.nlm.nih.gov/pubmed/26199771
http://dx.doi.org/10.1155/2015/919763

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4493303/
https://www.ncbi.nlm.nih.gov/pubmed/26199771
http://dx.doi.org/10.1155/2015/919763

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