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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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| 出版年: | Muscle Nerve |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2016
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| 主題: | |
| オンライン･アクセス: | 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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