Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant

Background: Fibrinogen A alpha-chain (AFib) amyloidosis is an autosomal dominant disease with an endemic foci in the district of Braga, northern Portugal [1]. Among the 16 amyloidogenic mutations identified in the fibrinogen A alpha-chain gene (FGA) [2,3], the c.1634A > T (p.Glu545Val) mutation (...

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Detalhes bibliográficos
Autor principal: Tavares, Isabel (author)
Outros Autores: Oliveira, Márcia E. (author), Maia, Nuno (author), Moreira, Luciana (author), Castro Lacerda, Pedro (author), Santos, Josefina (author), Santos, Rosário (author), Pinho Costa, Paulo (author), Lobato, Luísa (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
Amino Acid Substitution
Amyloidosis
Brazil
Female
Fibrinogen
Humans
Male
Portugal
Family
Haplotypes
Mutation, Missense
Polymorphism, Genetic
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/6609
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6609

Texto Completo

http://hdl.handle.net/10400.18/6609

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