Fragile X Syndrome

Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of FMRP, a pr...

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Библиографические подробности
Опубликовано в: :Colombia Médica
Главные авторы: Wilmar Saldarriaga, Flora Tassone, Laura Yuriko González-Teshima, Jose Vicente Forero-Forero, Sebastián Ayala-Zapata, Randi Hagerman
Формат: Artigo
Язык:Inglês
Опубликовано: Universidad del Valle 2014
Предметы:
Medicina
review
therapeutics
Fragile X Syndrome
genetic counselling
intellectual disability
Online-ссылка:https://www.redalyc.org/articulo.oa?id=28332886008
https://www.redalyc.org/journal/283/28332886008/
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