A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots

Background: FMR1 CGG trinucleotide repeat hyper-expansions are observed in 99% of individuals with fragile X mental retardation syndrome (FXS). We evaluated the reliability of a rapid single-step gender-neutral molecular screen for FXS when performed on DNA isolated from dried blood spots. Methods:...

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Detalles Bibliográficos
Autores principales: Tan, Vivienne J., Lian, Mulias, Faradz, Sultana M.H., Winarni, Tri I., Chong, Samuel S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277581/
https://www.ncbi.nlm.nih.gov/pubmed/30538724
http://dx.doi.org/10.3389/fgene.2018.00582

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277581/
https://www.ncbi.nlm.nih.gov/pubmed/30538724
http://dx.doi.org/10.3389/fgene.2018.00582

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