Triplet-Repeat Primed PCR and Capillary Electrophoresis for Characterizing the Fragile X Mental Retardation 1 CGG Repeat Hyperexpansions.
Sign Up to like & getrecommendations! Published in 2019 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-9213-3_14
Abstract: Fragile X mental retardation 1 (FMR1) CGG repeat expansions cause fragile X syndrome-the leading monogenic form of intellectual disability-and increase the risk for fragile X-associated tremor ataxia syndrome and fragile X-associated primary ovarian insufficiency. Southern… read more here.
Keywords: fragile mental; triplet repeat; repeat; mental retardation ... See more keywords
Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Laboratory Medicine"
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