Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records

BACKGROUND: New treatments for transthyretin amyloidosis improve survival, but diagnosis remains challenging. Pathogenic or likely pathogenic (P/LP) variants in the transthyretin (TTR) gene are one cause of transthyretin amyloidosis, and genomic screening has been proposed to identify at-risk indivi...

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Detalles Bibliográficos
Autores principales: Carry, Brendan J., Young, Katelyn, Fielden, Samuel, Kelly, Melissa A., Sturm, Amy C., Avila, J. David, Martin, Christa L., Kirchner, H. Lester, Fornwalt, Brandon K., Haggerty, Christopher M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8543083/
https://www.ncbi.nlm.nih.gov/pubmed/34746851
http://dx.doi.org/10.1016/j.jaccao.2021.07.002

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