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A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees

✍ Scribed by Jing, Xiang-Yi; Li, Xun-Hua; Yuan, Ping; Deng, Jia; Hu, Bin; Wang, Yiming


Book ID
123006374
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
692 KB
Volume
19
Category
Article
ISSN
1353-8020

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The sex-determining gene SRY was screened for molecular alteration in an XY sex-reversed female by single-strand conformation polymorphism (SSCP) technique. An A-to-G transition was detected which leads to an exchange of a tyrosine by a cysteine in the SRY protein. The affected tyrosine residue loca