Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome

© 2016 Aberrant CGG trinucleotide amplification within the FMR1 gene, which spans approximately 38 Kb of genomic DNA is almost always what leads to fragile X syndrome (FXS). However, deletions of part or the entire FMR1 gene can also cause FXS. Both CGG amplification-induced silencing and deletions...

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Bibliographic Details
Main Authors: P. Jiraanont, R. J. Hagerman, G. Neri, M. Zollino, M. Murdolo, F. Tassone
Other Authors: University of California, Davis
Format: Article
Published: 2018
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Online Access:https://repository.li.mahidol.ac.th/handle/123456789/42961
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Institution: Mahidol University