Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10
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DOI: 10.1371/journal.pone.0228789
Abstract: Large expansions of microsatellite DNA cause several neurological diseases. In Spinocerebellar ataxia type 10 (SCA10), the repeat interruptions change disease phenotype; an (ATTCC)n or a (ATCCT)n/(ATCCC)n interruption within the (ATTCT)n repeat is associated with the… read more here.
Keywords: ataxia type; spinocerebellar ataxia; repeat primed; repeat ... See more keywords
Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome
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DOI: 10.3343/alm.2021.41.4.394
Abstract: Background Conventional diagnosis of fragile X syndrome (FXS) is based on a combination of fragment analysis (FA) and Southern blotting (SB); however, this diagnostic approach is time- and labor-intensive and has pitfalls such as the… read more here.
Keywords: triplet repeat; conventional diagnostic; fragile syndrome; repeat primed ... See more keywords