Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis

INTRODUCTION: Hereditary transthyretin amyloidosis (ATTRv [variant]) is a clinically heterogeneous, progressively debilitating, fatal disease resulting from the deposition of insoluble amyloid fibrils in various organs and tissues. Early diagnosis of ATTRv can be facilitated with genetic testing; ho...

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Detalles Bibliográficos
Autores principales: Patel, Jignesh K., Rosen, Andrew M., Chamberlin, Adam, Feldmann, Benjamin, Antolik, Christian, Zimmermann, Heather, Johnston, Tami, Narayana, Arvind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Healthcare 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9588125/
https://www.ncbi.nlm.nih.gov/pubmed/35933469
http://dx.doi.org/10.1007/s40120-022-00385-1

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