Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene

• Main Authors: Lim G.X.Y., Yeo M., Koh Y.Y., Winarni T.I., Rajan-Babu I.-S., Chong S.S., Faradz S.M.H., Guan M.
• Other Authors: PAEDIATRICS
• Format: Article
• Published: Public Library of Science 2020
• Subjects: allele; consensus; genotype; human; major clinical study; mutation; polymerase chain reaction; quantitative study; reproducibility; trinucleotide repeat; validation process; female; fragile X syndrome; genetics; male; validation study; DNA; FMR1 protein, human; fragile X mental retardation protein; Female; Fragile X Mental Retardation Protein; Fragile X Syndrome; Genotype; Humans; Male; Mutation; Polymerase Chain Reaction; Trinucleotide Repeat Expansion
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/166016
• Institution: National University of Singapore

10.1371/journal.pone.0173279