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Demethylation, Reactivation, and Destabilization of Human Fragile X Full-Mutation Alleles in Mouse Embryocarcinoma Cells

The major causes of fragile X syndrome are mutational expansion of the CGG repeat in the FMR1 gene, hypermethylation, and transcriptional silencing. Most fragile X embryos develop somatic mosaicism of disease-causing “full” expansions of different lengths. Homogeneity of the mosaic patterns among mu...

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Detalhes bibliográficos
Main Authors: Wöhrle, Doris, Salat, Ulrike, Hameister, Horst, Vogel, Walter, Steinbach, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235481/
https://ncbi.nlm.nih.gov/pubmed/11462172
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