[Case report; The first transthyretin Thr49Ala variant case of familial amyloidotic polyneuropathy in Japan].
作者信息
Uda Kenji, Sakai Ryuichiro, Dei Rika, Iwai Katsushige, Mokuno Kenji
机构信息
Department of Neurology, Toyohashi Municipal Hospital, Japan.
出版信息
Nihon Naika Gakkai Zasshi. 2011 Oct 10;100(10):3028-30. doi: 10.2169/naika.100.3028.
PMID:22175145
Abstract
摘要
相似文献
1
[Case report; The first transthyretin Thr49Ala variant case of familial amyloidotic polyneuropathy in Japan].[病例报告；日本首例家族性淀粉样多神经病的转甲状腺素蛋白Thr49Ala变异病例]
Nihon Naika Gakkai Zasshi. 2011 Oct 10;100(10):3028-30. doi: 10.2169/naika.100.3028.
2
Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.转甲状腺素蛋白ALA 71：西班牙一个患有家族性淀粉样多神经病的家族中的一种新型转甲状腺素蛋白变体
Hum Mutat. 1993;2(5):420-1. doi: 10.1002/humu.1380020516.
3
Transthyretin and familial amyloidotic polyneuropathy.转甲状腺素蛋白与家族性淀粉样多发性神经病
Intern Med. 1993 Dec;32(12):920-2. doi: 10.2169/internalmedicine.32.920.
4
[Amyloidogenesis of variant transthyretin in familial amyloidotic polyneuropathy].[家族性淀粉样多神经病中变异型转甲状腺素蛋白的淀粉样变性形成]
No To Shinkei. 1994 May;46(5):425-31.
5
An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys 54.
Neurology. 1999 Aug 11;53(3):637-9. doi: 10.1212/wnl.53.3.637.
6
Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy.一个患有家族性淀粉样多神经病的荷兰家族中的转甲状腺素蛋白Val71Ala突变
Amyloid. 2000 Sep;7(3):218-21. doi: 10.3109/13506120009146837.
7
Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy.意大利一家患有家族性淀粉样多神经病的转甲状腺素蛋白Met30突变的分子诊断
FEBS Lett. 1995 Feb 13;359(2-3):203-5. doi: 10.1016/0014-5793(95)00046-c.
8
Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family.转甲状腺素蛋白Ala97Ser与中国台湾一个家族的家族性淀粉样多神经病相关。
Hum Mutat. 2000 Aug;16(2):180. doi: 10.1002/1098-1004(200008)16:2<180::AID-HUMU19>3.0.CO;2-A.
9
Genetic abnormalities and pathogenesis of familial amyloidotic polyneuropathy.家族性淀粉样多神经病的基因异常与发病机制
Pathol Int. 1995 Jan;45(1):1-9. doi: 10.1111/j.1440-1827.1995.tb03373.x.
10
A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy.一种与家族性淀粉样多发性神经病相关的转甲状腺素蛋白新变体（Glu89Lys）
Amyloid. 2000 Mar;7(1):46-50. doi: 10.3109/13506120009146824.
Zotero 插件