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Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

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第一作者: Raman,Kumar
第一单位: Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and.
作者单位: Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and. [1] School of Paediatrics and Reproductive Health, Robinson Research Institute and. [2] School of Paediatrics and Reproductive Health, Robinson Research Institute and, Department of Neurology, Women's and Children's Health Network, Adelaide, SA, Australia. [3] Department of Human Physiology and Centre for Neuroscience, Flinders University of South Australia, Adelaide, SA, Australia. [4] Applied Molecular Bioscience, Yamaguchi University, Yamaguchi, Japan. [5] The Walter and Eliza Hall Institute of Medical Research and Department of Medical Biology. [6] Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. [7] Department of Neurology, Women's and Children's Health Network, Adelaide, SA, Australia. [8] Centre for Disability Health, Modbury Hospital, Adelaide, SA, Australia. [9] Department of Paediatrics and, Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, VIC, Australia. [10] The Walter and Eliza Hall Institute of Medical Research and Department of Medical Biology, Department of Mathematics and Statistics, The University of Melbourne, Melbourne, VIC, Australia. [11] Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, CA, USA and. [12] School of Paediatrics and Reproductive Health, Robinson Research Institute and, South Australian Clinical Genetics Service, SA Pathology, Adelaide, SA, Australia. [13] Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia, jozef.gecz@adelaide.edu.au. [14]
DOI 10.1093/hmg/ddu614
PMID 25504045
发布时间 2020-12-09
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Human molecular genetics

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