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...

Descripción completa

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

Internet

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

Ejemplares similares