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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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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2012
Fag:
Research
Online adgang: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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