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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2015
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| Materias: | |
| 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 |