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The Fragile-X Premutation: A Maturing Perspective

Carriers of premutation alleles (55–200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one (or more) of three distinct clinical disorders: mild cognitive and/or behav...

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Autores principales: Hagerman, Paul J., Hagerman, Randi J.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2004
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181976/
https://ncbi.nlm.nih.gov/pubmed/15052536
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