Different phenotypes of transthyretin-associated familial amyloid polyneuropathy due to a mutation in p.Glu109Gln in members of the same family

Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is an unusual but life-threatening disease that is autosomal dominant inherited and involves the mutation of the transthyretin (TTR) gene. A total of 26 patients with TTR-FAP and different mutations, including the p.Glu 109Gln mutati...

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Detalles Bibliográficos
Autores principales: Erdogan, Cagdas, Tekin, Selma, Unluturk, Zeynep, Uyguner, Zehra Oya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8430354/
https://www.ncbi.nlm.nih.gov/pubmed/34585077
http://dx.doi.org/10.14744/nci.2020.98852

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8430354/
https://www.ncbi.nlm.nih.gov/pubmed/34585077
http://dx.doi.org/10.14744/nci.2020.98852

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