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Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome

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 possibility of missing large number alleles. Triplet repeat prime...

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Detalles Bibliográficos
Autores principales:	Gu, Hyunjung, Kim, Man Jin, Yang, Dahae, Song, Ji Yun, Cho, Sung Im, Park, Sung Sup, Seong, Moon-Woo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society for Laboratory Medicine 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7884195/ https://www.ncbi.nlm.nih.gov/pubmed/33536358 http://dx.doi.org/10.3343/alm.2021.41.4.394

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