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Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

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第一作者: Shruthi,Mohan
第一单位: Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
作者单位: Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA. [1] Aix Marseille Univ, INSERM, MMG, U 1251, Marseille, France.;Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France. [2] Division of Clinical Pharmacology and Toxicology, The Hospital for Sick Children, Toronto, Ontario, Canada. [3] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. [4] Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.;Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland. [5] Department of Medicine, University of Sciences, Techniques and Technologies of Bamako, Bamako, Mali. [6] Department of Neurology, Washington University School of Medicine in St. Louis, St Louis, Missouri, USA. [7] Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland. [8] Department of clinical genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. [9] Kids Neuroscience Centre, Children's Hospital at Westmead, Westmead, New South Wales, Australia.;School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.;Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia. [10] Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.;Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA. [11] Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA. [12] Illumina Inc, San Diego, California, USA. [13] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA. [14] Coalition to Cure Calpain 3, Westport, Connecticut, USA. [15] Jain Foundation, Seattle, Washington, USA. [16] Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland. [17] Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA. [18] John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK. [19]
DOI 10.1002/acn3.52127
PMID 39215466
发布时间 2024-11-07
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Annals of clinical and translational neurology

Annals of clinical and translational neurology

2024年11卷9期

2268-2276页

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