Genomic Context Analysis of <i>de Novo STXBP1</i> Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.

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作者： Mohammed,Uddin ^[1] ; Marc,Woodbury-Smith ^[2] ; Ada J S,Chan ^[2] ; Ammar,Albanna ^[3] ; Berge,Minassian ^[2] ; Cyrus,Boelman ^[4] ; Stephen W,Scherer ^[5]

作者单位： Mohammed Bin Rashid University of Medicine and Health Sciences, College of Medicine, 505055 Dubai, United Arab Emirates 505055, mohammed.uddin@mbru.ac.ae Stephen.Scherer@sickkids.ca. ^[1] The Centre for Applied Genomics. ^[2] Institute of Neuroscience NE2 4HH is the postal code, Newcastle University, Newcastle upon Tyne, United Kingdom. ^[3] Program in Genetics and Genome Biology. ^[4] Department of Molecular Genetics and. ^[5] Mohammed Bin Rashid University of Medicine and Health Sciences, College of Medicine, 505055 Dubai, United Arab Emirates 505055. ^[6] Division of Neurology, BC Children's Hospital, Vancouver, BC, Canada V6H 3N1, and. ^[7] Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates PO Box: 76662. ^[8] Division of Neurology, and. ^[9] The Centre for Applied Genomics, mohammed.uddin@mbru.ac.ae Stephen.Scherer@sickkids.ca. ^[10] McLaughlin Centre, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8. ^[11]

关键词 DNA motif Mutant Screen Report epilepsy encephalopathy genome context loss of function mutation mutation etiology

主题词碱基序列(Base Sequence);基因组, 人(Genome, Human);人类(Humans);Munc18蛋白质类(Munc18 Proteins);突变(Mutation);RNA剪接位点(RNA Splice Sites)

DOI 10.1534/g3.118.200080

PMID 29438995

发布时间 2018-11-13

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