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Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach.

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第一作者： Jacky,Guy

第一单位： University of Edinburgh, Institute of Cell Biology, Michael Swann Building, Max Born Crescent, Edinburgh, EH9 3BF, UK.

作者： Jacky,Guy ^[1] ; Elena,Hein ^[1] ; Bea,Alexander-Howden ^[1] ; Timur,von Bock Und Polach ^[1] ; Tricia,Mathieson ^[1] ; Benjamin P,Kleinstiver ^[2] ; Huda,Zoghbi ^[3] ; Adrian,Bird ^[1]

作者单位： University of Edinburgh, Institute of Cell Biology, Michael Swann Building, Max Born Crescent, Edinburgh, EH9 3BF, UK. ^[1] Center for Genomic Medicine and Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, USA.;Department of Pathology, Harvard Medical School, Boston, MA 02115, USA. ^[2] Department of Molecular and Human Genetics and Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.;Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.;Howard Hughes Medical Institute, Houston, TX 77030, USA. ^[3]

DOI 10.1101/2025.08.31.673354

PMID 40949944

发布时间 2025-09-22

基金项目

WT_/Wellcome Trust/United Kingdom DP2 CA281401/CA/NCI NIH HHS/United States

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Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach.

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Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach.

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