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Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD

Abstract Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus...

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Principais autores: Danijela Drakulic, Srdjan Djurovic, Yasir Ahmed Syed, Sebastiano Trattaro, Nicolò Caporale, Anna Falk, Rivka Ofir, Vivi M. Heine, Samuel J. R. A. Chawner, Antonio Rodriguez-Moreno, Marianne B. M. van den Bree, Giuseppe Testa, Spyros Petrakis, Adrian J. Harwood
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2020-06-01
coleção:Molecular Autism
Assuntos:
Human iPSCs
Copy number variants (CNVs)
Neurodevelopmental disorders (NDD)
Autism spectrum disorders (ASD)
Acesso em linha:http://link.springer.com/article/10.1186/s13229-020-00343-4
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