Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review

BACKGROUND: p.Ser43Asn is a very rare transthyretin (TTR) mutation leading to familial amyloidosis of transthyretin type, ATTR amyloidosis. It was previously observed in four patients worldwide and is associated almost invariably with an isolated cardiac phenotype. METHODS AND RESULTS: We report her...

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Detalles Bibliográficos
Autores principales: Papathanasiou, Maria, Carpinteiro, Alexander, Kersting, David, Jakstaite, Aiste‐Monika, Hagenacker, Tim, Schlosser, Thomas‐Wilfried, Rischpler, Christoph, Rassaf, Tienush, Luedike, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683619/
https://www.ncbi.nlm.nih.gov/pubmed/33345470
http://dx.doi.org/10.1002/mgg3.1581

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