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pro vyhledávání: '"Ana Carolina Coutinho Barbosa"'
Publikováno v:
Chromosome Research. 8:645-650
Roberts syndrome (RS) is associated with a characteristic constitutive heterochromatin anomaly, namely, at metaphase the centromeres and heterochromatic segments appear split. In addition to this cytogenetic phenomenon, known as the RS effect, severa
Autor:
Marc Jeanpierre, Déborah Bourc'his, Pierre Miniou, E. Viegas-Péquignot, Véronique Blanquet, Ana Carolina Coutinho Barbosa
Publikováno v:
Human Genetics. 99:738-745
The methylation profile of ten alpha-satellites was investigated in normal individuals and in ICF (Immunodeficiency, Centromeric instability, Facial abnormalities) patients. Two out of three ICF patients showed modified methylation of these sequences