Article

Optimization, Validation and Initial Clinical Implications of a Luminex-based Immunoassay for the Quantification of Fragile X Protein from Dried Blood Spots

2021-09-16

Abstract excerpt

<h4>Background: </h4> Fragile X syndrome (FXS) is the most common inherited form of intellectual disability affecting 1 in 4,000 males and 1 in 6-8,000 females. FXS is caused by a trinucleotide expansion in the 5’UTR of the Fragile X Mental Retardation (FMR1) gene which in full mutation carriers (>200 repeats) leads to hypermethylation and transcriptional silencing of the gene and lack of expression of Fragile X P...

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Literature Corpus work: d24ba603-9013-57fc-80c1-04ea2433cc9a
DOI: 10.21203/rs.3.rs-850436/v2

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