FXTAS IN AN UNMETHYLATED MOSAIC MALE WITH FRAGILE X SYNDROME FROM CHILE

Fragile X Syndrome is caused by expansion of CGG repeats to >200 in 5′-untranslated region of fragile X mental retardation 1 (FMR1) gene [full mutation (FM)]. Carriers of an FMR1 repeat expansion in premutation range (55–200 CGG repeats) often develop a syndrome similar to parkinsonism, designate...

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Bibliografiska uppgifter
Huvudupphovsmän: María, Lorena Santa, Pugin, Angela, Alliende, M Angélica, Aliaga, Solange, Curotto, Bianca, Aravena, Teresa, Tang, Hiu-tung, Morales, Guadalupe Mendoza, Hagerman, Randi, Tassone, Flora
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2013
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4004716/
https://ncbi.nlm.nih.gov/pubmed/24028275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12278
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