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Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

OBJECTIVE: To compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical Portuguese Val30Met FAP. METHODS: We compared 84 French patients with a control group of 110 Portuguese patients carr...

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Detalles Bibliográficos
Autores principales: Mariani, Louise‐Laure, Lozeron, Pierre, Théaudin, Marie, Mincheva, Zoia, Signate, Aissatou, Ducot, Beatrice, Algalarrondo, Vincent, Denier, Christian, Adam, Clovis, Nicolas, Guillaume, Samuel, Didier, Slama, Michel S., Lacroix, Catherine, Misrahi, Micheline, Adams, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738459/
https://www.ncbi.nlm.nih.gov/pubmed/26369527
http://dx.doi.org/10.1002/ana.24519