Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)

Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest. FAP ATTRV30M shows a wide variation in age at onset (AO) between clusters, families and generations. Portuguese patients also show remarkabl...

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Detalhes bibliográficos
Autor principal: Santos, D (author)
Outros Autores: Coelho, T (author), Alves-Ferreira, M (author), Sequeiros, J (author), Mendonça, D (author), Alonso, I (author), Lemos, C (author), Sousa, A (author)
Formato: article
Idioma:eng
Publicado em: 2016
Assuntos:
RBP4 gene
AR gene
Familial Amyloid Polyneuropathy
Texto completo:http://hdl.handle.net/10216/114745
País:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/114745

Texto Completo

http://hdl.handle.net/10216/114745

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