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CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

A high level of cytogenetic expression of the rare folate-sensitive fragile site FRA12A is significantly associated with mental retardation. Here, we identify an elongated polymorphic CGG repeat as the molecular basis of FRA12A. This repeat is in the 5′ untranslated region of the gene DIP2B, which e...

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Hlavní autoři: Winnepenninckx, Birgitta , Debacker, Kim , Ramsay, Jacqueline , Smeets, Dominique , Smits, Arie , FitzPatrick, David R. , Kooy, R. Frank 
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2007
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785358/
https://ncbi.nlm.nih.gov/pubmed/17236128
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