Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

BACKGROUND: The term "position effect" is used when the expression of a gene is deleteriously affected by an alteration in its chromosomal environment even though the integrity of the protein coding sequences is maintained. We describe a patient affected by epilepsy and severe neurodevelop...

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Detalhes bibliográficos
Main Authors: Finelli, Palma, Sirchia, Silvia Maria, Masciadri, Maura, Crippa, Milena, Recalcati, Maria Paola, Rusconi, Daniela, Giardino, Daniela, Monti, Laura, Cogliati, Francesca, Faravelli, Francesca, Natacci, Federica, Zoccante, Leonardo, Bernardina, Bernardo Dalla, Russo, Silvia, Larizza, Lidia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3395859/
https://ncbi.nlm.nih.gov/pubmed/22475481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-5-16
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