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Fragile X spectrum disorders

The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5′ untranslated region; abnormal alleles of dynamic mutations include the full mutation...

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Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Lozano, Reymundo, Rosero, Carolina Alba, Hagerman, Randi J
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4298643/
https://ncbi.nlm.nih.gov/pubmed/25606363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2014.01022
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