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

Abstract 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 rep...

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Principais autores: Maria Papathanasiou, Alexander Carpinteiro, David Kersting, Aiste‐Monika Jakstaite, Tim Hagenacker, Thomas‐Wilfried Schlosser, Christoph Rischpler, Tienush Rassaf, Peter Luedike
פורמט: Artigo
שפה:Inglês
יצא לאור: Wiley 2021-12-01
סדרה:Molecular Genetics & Genomic Medicine
נושאים:
ATTR
amyloidosis
cardiomyopathy
transthyretin
גישה מקוונת:https://doi.org/10.1002/mgg3.1581
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