Article
Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Aug 2017
Tavares Isabel, Oliveira João Paulo, Pinho Ana, Moreira Luciana, Rocha Liliana, Santos Josefina, Pinheiro Joaquim, Costa Paulo Pinho, Lobato Luísa
Abstract excerpt
BACKGROUND: Fibrinogen A α-chain (AFib) amyloidosis results from autosomal-dominant mutations in the gene encoding AFib (FGA). Patients with this disorder typically present with proteinuria. Isolated cases of AFib amyloidosis, carrying the FGA p.Glu545Val variant, were identified in the district of Braga, in northwest Portugal. This observation led us to hypothesize that this disorder might be an unrecognized...
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