Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis

Objectives: Val30Met in transthyretin (TTR) gene is causative for familial amyloid polyneuropathy (FAP). FAP shows a wide variation in age-at-onset (AO) between clusters, families, and among generations. We aim at identifying genetic modifiers of disease onset that may contribute to this variability...

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Detalhes bibliográficos
Autor principal: Alves-Ferreira, M (author)
Outros Autores: Azevedo, A (author), Coelho, T (author), Santos, D (author), Sequeiros, J (author), Alonso, I (author), Sousa, A (author), Lemos, C (author)
Formato: article
Idioma:eng
Publicado em: 2021
Assuntos:
TTR gene
Age-at-onset
Familial amyloid polyneuropathy
Genetic modifiers
Hereditary transthyretin
Promoter
Texto completo:https://hdl.handle.net/10216/132491
País:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/132491

Texto Completo

https://hdl.handle.net/10216/132491

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