Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

Mosaicism for FMR1 premutation (PM: 55–199 CGG)/full mutation (FM: >200 CGG) alleles or the presence of unmethylated FM (UFM) have been associated with a less severe fragile X syndrome (FXS) phenotype and fragile X associated tremor/ataxia syndrome (FXTAS)—a late onset neurodegenerative disorder....

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發表在:Genes (Basel)
Main Authors: Hwang, Yun Tae, Dudding, Tracy, Aliaga, Solange Mabel, Arpone, Marta, Francis, David, Li, Xin, Slater, Howard Robert, Rogers, Carolyn, Bretherton, Lesley, du Sart, Desirée, Heard, Robert, Godler, David Eugeny
格式: Artigo
語言:Inglês
出版: MDPI 2016
主題:
Case Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5042398/
https://ncbi.nlm.nih.gov/pubmed/27657133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes7090068
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