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Updated: Sep 9, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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遺伝的トランスチレチンアミロイドーシスの遺伝的および臨床的特徴:日本の紹介センターでの10年間の経験

Toshiya Nomura1,2, Yohei Misumi3,4, Masayoshi Tasaki3,4,5

  • 1Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan. caramelbox0106@gmail.com.

Orphanet journal of rare diseases
|September 2, 2025
PubMed
まとめ

遺伝的トランスチレチンアミロイドーシス (ATTRv) は,特に非流行地域では,多様な遺伝的および臨床的特徴を示しています. 早期診断は この珍しい遺伝疾患の 管理に不可欠です

キーワード:
アミロイドエンドミックな地域遺伝性トランスチレチンアミロイドーシスエンドミックでない地域トランスチレチン

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