Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion
Santos-Rebouças, Cíntia B, Boy, Raquel, Vianna, Evelyn Q, Gonçalves, Andressa P, Piergiorge, Rafael M, Abdala, Bianca B, Dos Santos, Jussara M, Calassara, Veluma, Machado, Filipe B, Medina-Acosta, Enrique, Pimentel, Márcia M G
Published in Frontiers in genetics (04.03.2020)
Published in Frontiers in genetics (04.03.2020)
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Identification of a highly polymorphic tetranucleotide repeat locus (DXpS) at Xp and development of a DXpS/HUMARA biplex methylation-based PCR assay that enhances detection of X-chromosome inactivation
Machado, Filipe, Ramos, Ester, Radic, Pamela, de Brasi, Carlos, Medina-Acosta, Enrique
Published in Nature precedings (21.11.2011)
Published in Nature precedings (21.11.2011)
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