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Mutation Spectra in Fragile X Syndrome Induced by Deletions of CGG·CCG Repeats

The fragile X syndrome results from expansions as well as deletions of the repeating CGG·CCG DNA sequence in the 5′-untranslated region of the FMR1 gene on the X chromosome. The relative frequency of disease cases promoted by these two types of mutations cannot be ascertained at present because the...

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Detalhes bibliográficos
Autor principal: Wells, Robert D.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2658034/
https://ncbi.nlm.nih.gov/pubmed/18957433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.R800024200
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