Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy
Author:
Publisher
Informa UK Limited
Subject
Internal Medicine
Link
http://www.tandfonline.com/doi/pdf/10.3109/13506129.2013.827110
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1. A PECULIAR FORM OF PERIPHERAL NEUROPATHY
2. Familial amyloid polyneuropathy
3. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal)
4. Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients
5. Genotype – phenotype correlation in FAP
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