𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells with Distinct Mutations in SMC1A and SMC3 Genes

✍ Scribed by Gimigliano, Anna; Mannini, Linda; Bianchi, Laura; Puglia, Michele; Deardorff, Matthew A.; Menga, Stefania; Krantz, Ian D.; Musio, Antonio; Bini, Luca


Book ID
118152032
Publisher
American Chemical Society
Year
2012
Tongue
English
Weight
503 KB
Volume
11
Category
Article
ISSN
1535-3893

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutations and variants in the cohesion f
✍ Juan Pié; María Concepción Gil-Rodríguez; Milagros Ciero; Eduardo López-Viñas; M 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 2 views

## Abstract Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (__NIPBL__, __SMC1A__, and __SMC3__) of the cohesin complex and its regulators have been found in affected patients. Here, we present