Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy

Transthyretin familial amyloid polyneuropathy (TTR‐FAP) is a rare, severe, and irreversible, adult‐onset, hereditary disorder caused by autosomal‐dominant mutations in the TTR gene that increase the intrinsic propensity of transthyretin protein to misfold and deposit systemically as insoluble amyloi...

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Bibliografiske detaljer
Udgivet i:Muscle Nerve
Main Authors: Schmidt, Hartmut H.‐J., Barroso, Fabio, González‐Duarte, Alejandra, Conceição, Isabel, Obici, Laura, Keohane, Denis, Amass, Leslie
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2016
Fag:
Invited Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5113802/
https://ncbi.nlm.nih.gov/pubmed/27273296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.25210
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