Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK

Hereditary transthyretin-mediated amyloidosis (hATTR) is challenging to diagnose early owing to the heterogeneity of clinical presentation, which differs according to the TTR gene variant and its penetrance in each individual. The TTR variants seen most frequently in the UK and Ireland (T80A, V142I...

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Detalles Bibliográficos
Autores principales: Gillmore, Julian D., Reilly, Mary M., Coats, Caroline J., Cooper, Rob, Cox, Helen, Coyne, Mark R. E., Green, Andrew J., McGowan, Ruth, Moody, William E., Hawkins, Philip N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Healthcare 2022
Materias:
Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122857/
https://www.ncbi.nlm.nih.gov/pubmed/35419651
http://dx.doi.org/10.1007/s12325-022-02139-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122857/
https://www.ncbi.nlm.nih.gov/pubmed/35419651
http://dx.doi.org/10.1007/s12325-022-02139-9

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