Donor splice‐site mutation in CUL4B is likely cause of X‐linked intellectual disability期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Donor splice‐site mutation in CUL4B is likely cause of X‐linked intellectual disability

Authors:	Eric R. Londin Jeffrey Adijanto Nancy Philp Antonio Novelli Emilia Vitale Chiara Perria Gigliola Serra Viola Alesi Saul Surrey Paolo Fortina

Affiliation:	1. Computational Medicine Center, Thomas Jefferson University, Philadelphia, Pennsylvania;2. Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania;3. Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, Roma, Italy;4. CNR Institute of Cibernetics, Naples, Italy;5. Department of Clinical and Experimental Medicine, Unit of Child Neuropsychiatry, University of Sassari, Sassari, Italy;6. Medical Genetics Unit, San Pietro Hospital Fatebenefratelli, Rome, Italy;7. Department of Medicine, Cardeza Foundation for Hematologic Research, Thomas Jefferson University, Philadelphia, Pennsylvania;8. Department of Cancer Biology, Jefferson Cancer Genomics, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania;9. Department of Molecular Medicine, Sapienza Universita' di Roma, Rome, Italy

Abstract:

Keywords:	intellectual disability X‐linked exome sequencing