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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Main Authors: | , , , , , |
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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 |