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Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D.

作者信息

Yamashita Taro, Ueda Mitsuharu, Saga Nobuyuki, Nanto Kiyonori, Tasaki Masayoshi, Masuda Teruaki, Misumi Yohei, Oda Seitaro, Fujimoto Akiko, Amano Tomoko, Takamatsu Kotaro, Yamashita Satoshi, Obayashi Konen, Matsui Hirotaka, Ando Yukio

机构信息

a Department of Neurology , Graduate School of Medical Sciences, Kumamoto University , Kumamoto , Japan.

b Diagnostic Unit for Amyloidosis, Kumamoto University Hospital , Kumamoto , Japan.

出版信息

Amyloid. 2016 Sep;23(3):207-208. doi: 10.1080/13506129.2016.1202228. Epub 2016 Sep 20.

DOI:10.1080/13506129.2016.1202228
PMID:27646980
Abstract
摘要

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引用本文的文献

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Hereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S).由新型变体转甲状腺素蛋白Y114S(p.Y134S)引起的遗传性转甲状腺素蛋白淀粉样变心肌病
Intern Med. 2019 Sep 15;58(18):2695-2698. doi: 10.2169/internalmedicine.2456-18. Epub 2019 Jun 7.
2
Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan.遗传性转甲状腺素蛋白淀粉样变性在流行和非流行地区的遗传和临床特征:来自日本单一转诊中心的经验。
J Neurol. 2018 Jan;265(1):134-140. doi: 10.1007/s00415-017-8640-7. Epub 2017 Nov 24.