Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous developmental disorder characterized by facial dysmorphia, upper limb malformations, growth and cognitive retardation. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A and SMC3 are present in ∼65% of CdLS patients. I...

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Detalhes bibliográficos
Main Authors: Revenkova, Ekaterina, Focarelli, Maria Luisa, Susani, Lucia, Paulis, Marianna, Bassi, Maria Teresa, Mannini, Linda, Frattini, Annalisa, Delia, Domenico, Krantz, Ian, Vezzoni, Paolo, Jessberger, Rolf, Musio, Antonio
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2009
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2722190/
https://ncbi.nlm.nih.gov/pubmed/18996922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn369
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