novel de novo mutation in PRKCE ( Protein Kinase C ) impairing TORC 2 dependent AKT ɛ activation

Diana Alcantara, Frances Elmslie,Martine Tetreault,Eric Bareke,Taila Hartley,Jacek Majewski,Kym Boycott, A. Micheil Innes, A. David, Dyment, Mark O’Driscoll

semanticscholar（2019）

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摘要

http://sro.sussex.ac.uk Alcantara, Diana, Elmslie, Frances, Tetreault, Martine, Bareke, Eric, Hartley, Taila, Care4Rare Consortium, , Majewski, Jacek, Boycott, Kym, Innes, A Micheil, Dyment, David A and O'Driscoll, Mark (2017) SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation. Human Molecular Genetics, 26 (19). pp. 3713-3721. ISSN 1460-2083

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