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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042398/
https://www.ncbi.nlm.nih.gov/pubmed/27657133
http://dx.doi.org/10.3390/genes7090068

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