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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...

詳細記述

保存先:
書誌詳細
主要な著者: Hellman, Urban, Alarcon, Flora, Lundgren, Hans Eric, Suhr, Ole, Bonaïti-Pellié, Catherine, Planté-Bordeneuve, Violaine
フォーマット: Artigo
言語:Inglês
出版事項: Informa Healthcare 2008
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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