Article
Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis.
The Journal of molecular diagnostics : JMD - 1 May 2021
Lian Mulias, Zhao Mingjue, Phang Gui-Ping, Soong Yun-Ting, Yoon Chui-Sheun, Lee Caroline G, Law Hai-Yang, Chong Samuel S
Abstract excerpt
The autosomal dominantly inherited spinocerebellar ataxias (SCAs) can be caused by dynamic mutations of short tandem repeats within various genes. Because of the significant clinical overlap among the various SCA types, molecular screening of multiple genetic loci by fluorescent PCR and capillary electrophoresis is necessary to identify the causative repeat expansion. We describe a simple, rapid, and inexpensive...
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