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Altered Intra-Nuclear Organisation of Heterochromatin and Genes in ICF Syndrome
The ICF syndrome is a rare autosomal recessive disorder, the most common symptoms of which are immunodeficiency, facial anomalies and cytogenetic defects involving decondensation and instability of chromosome 1, 9 and 16 centromeric regions. ICF is also characterised by significant hypomethylation o...
Autores principales: | Jefferson, Andrew, Colella, Stefano, Moralli, Daniela, Wilson, Natalie, Yusuf, Mohammed, Gimelli, Giorgio, Ragoussis, Jiannis, Volpi, Emanuela V. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2894064/ https://www.ncbi.nlm.nih.gov/pubmed/20613881 http://dx.doi.org/10.1371/journal.pone.0011364 |
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