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Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.

Fragile X syndrome is the major cause of inherited mental retardation. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene. The fragile X syndrome shows great diversity in its phenotype as...

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Detalhes bibliográficos
Main Authors: Pintado, E, de Diego, Y, Hmadcha, A, Carrasco, M, Sierra, J, Lucas, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051748/
https://ncbi.nlm.nih.gov/pubmed/8592340
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