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Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population
Transthyretin (TTR) familial amyloid polyneuropathies (FAP) are autosomal dominant devastating afflictions, first described in Portugal, later in Japan and Sweden, now recognized worldwide. The TTR-Val30Met mutation is the most common, and depending on the geographic origin, a wide variation in age...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Informa Healthcare
2008
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2738945/ https://ncbi.nlm.nih.gov/pubmed/18925456 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13506120802193720 |
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