Size and methylation mosaicism in males with Fragile X syndrome

BACKGROUND: Size and methylation mosaicism are a common phenomenon in Fragile X syndrome (FXS). Here, the authors report a study on twelve fragile X males with atypical mosaicism, seven of whom presented with autism spectrum disorder. METHODS: A combination of Southern Blot and PCR analysis was used...

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Bibliografiske detaljer
Udgivet i:Expert Rev Mol Diagn
Main Authors: Jiraanont, Poonnada, Kumar, Madhur, Tang, Hiu-Tung, Espinosa, Glenda, Hagerman, Paul J, Hagerman, Randi J., Chutabhakdikul, Nuanchan, Tassone, Flora
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5924764/
https://ncbi.nlm.nih.gov/pubmed/28929824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/14737159.2017.1377612
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