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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出版年:	Molecular Autism
主要な著者:	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
フォーマット:	論文
言語:	英語
出版事項:	BMC 2020-06-01
主題:	Human iPSCs Copy number variants (CNVs) Neurodevelopmental disorders (NDD) Autism spectrum disorders (ASD)
オンライン･アクセス:	http://link.springer.com/article/10.1186/s13229-020-00343-4