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Article

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

Scientific reports - 4 Apr 2022

Boggs Anna E, Schmitt Lauren M, McLane Richard D, Adayev Tatyana, LaFauci Giuseppe, Horn Paul S, Dominick Kelli C, Gross Christina, Erickson Craig A

Abstract excerpt

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, sensitive assays to detect FXP makes evaluation of peripheral FXP as a source of clinical variability challenging. We...

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PMID: 35379866
DOI: 10.1038/s41598-022-09633-8
PMCID: PMC8980090

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FMR1

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