Abstract : Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to STAG1 mutations.
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01549105
Contributeur : Gad - Université de Bourgogne
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Soumis le : mercredi 28 juin 2017 - 15:07:04
Dernière modification le : mardi 6 février 2018 - 15:56:21
