טוען...

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, limb anomalies, and growth and cognitive deficits. Mutations in genes encoding subunits (SMC1A, SMC3, RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex account for approximately 65% of cli...

תיאור מלא

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מידע ביבליוגרפי
Main Authors: Parenti, Ilaria, Rovina, Davide, Masciadri, Maura, Cereda, Anna, Azzollini, Jacopo, Picinelli, Chiara, Limongelli, Giuseppe, Finelli, Palma, Selicorni, Angelo, Russo, Silvia, Gervasini, Cristina, Larizza, Lidia
פורמט: Artigo
שפה:Inglês
יצא לאור: Landes Bioscience 2014
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4143412/
https://ncbi.nlm.nih.gov/pubmed/24756084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/epi.28903
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