Optimization, validation and initial clinical implications of a Luminex-based immunoassay for the quantification of Fragile X Protein from dried blood spots

Fragile X Syndrome (FXS) is caused by a trinucleotide expansion leading to silencing of the FMR1 gene and lack of expression of Fragile X Protein (FXP, formerly known as Fragile X Mental Retardation Protein, FMRP). Phenotypic presentation of FXS is highly variable, and the lack of reproducible, sens...

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Detalles Bibliográficos
Autores principales: Boggs, Anna E., Schmitt, Lauren M., McLane, Richard D., Adayev, Tatyana, LaFauci, Giuseppe, Horn, Paul S., Dominick, Kelli C., Gross, Christina, Erickson, Craig A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8980090/
https://www.ncbi.nlm.nih.gov/pubmed/35379866
http://dx.doi.org/10.1038/s41598-022-09633-8

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