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Updated: Jan 8, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

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台湾ALS患者的SOD1突变:临床特征,频率和p.T138R创始效应

Kang-Yang Jih1,2,3,4, Yu-Sheun Tsai5, Shih-Yu Fang1,2

  • 1Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.

Amyotrophic lateral sclerosis & frontotemporal degeneration
|December 22, 2025
PubMed
概括

SOD1基因的突变导致肌缩侧面硬化症 (ALS),并与早期发病有关. 在台湾的ALS患者中发现了一种创始变异p.T138R,这突显了基因查的必要性.

关键词:
肌缩性侧面硬化症 (AMLS) 是一种疾病.在SOD1中,SOD1是SOD1.这是创始人效应.运动神经元疾病 运动神经元疾病

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