منابع مشابه
European Human Genetics Conference, May 21–24, 2016, Barcelona, Spain
Fragile X Syndrome (FXS) is caused by an expansion of CGG trinucleotide repeats in the 5′ untranslated region of the Fragile X mental retardation 1 (FMR1) geneon theXchromosome.Affected individuals possess over 200 copies of the CGG repeat, resulting in hypermethylation of the FMR1 promoter, which leads to epigenetic silencing of the gene and FMRP protein deficiency. Children with FXS display i...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2008
ISSN: 1465-6906
DOI: 10.1186/gb-2008-9-8-318