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TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis

✍ Scribed by Rui Huang; Deng-Fu Fang; Ming-Yi Ma; Xiao-Yan Guo; Bi Zhao; Yan Zeng; Dong Zhou; Yuan Yang; Hui-Fang Shang


Book ID
116781637
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
743 KB
Volume
33
Category
Article
ISSN
0197-4580

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Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS) patients in the TARDBP gene encoding TAR DNA binding protein (TDP)-43, the major protein of the ubiquitinated inclusions (UBIs) found in affected motor neurons (MNs). The aim of this study was to further define