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Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

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作者单位: Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA. [1] Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.;Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA. [3] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.;Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [4] Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.;Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.;Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.;Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA. [5] Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA. [6] Department of Clinical Pathology, Nottingham University Hospitals, Nottingham, UK. [7] Department of Neurology, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK. [8] Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK. [9] John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. [10] Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA. [11] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA. [12] Molecular Cardiology Research Institute, Tufts Medical Center, Boston, Massachusetts, USA. [13] Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.;Institute for Translational Neuroscience, University of Minnesota Medical School, Minneapolis, Minnesota, USA. [14]
DOI 10.1002/mus.28214
PMID 39072769
发布时间 2024-10-11
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