首页 | 本学科首页   官方微博 | 高级检索  
     


Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia
Authors:Zi-xiong Zhan  Xin-xin Liao  Juan Du  Ying-ying Luo  Zhao-ting Hu  Jun-ling Wang  Xin-xiang Yan  Jian-guo Zhang  Mei-zhi Dai  Peng Zhang  Kun Xia  Bei-sha Tang  Lu Shen
Affiliation:1. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China;2. Neurodegenerative Disorders Research Center, Central South University, Changsha 410008, China;3. BGI-Shenzhen, Shenzhen, Guangdong Province 518083, China;4. State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, China;1. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands;2. Department of Pediatric Endocrinology, University Medical Center Utrecht, Utrecht, The Netherlands;3. Department of Child and Adolescent Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands;4. Rehabilitation Center De Hoogstraat, Utrecht, The Netherlands;1. Department of Medical and Surgical Critical Care, University of Florence, Viale Morgagni 85, 50134 Florence, Italy;2. Center of the Study at Molecular and Clinical Level of Chronic, Degenerative and Neoplastic Disease to Develop Novel Therapies, University of Florence, Italy;3. Department of Heart and Vessels, Azienda Ospedaliero-Universitaria Careggi, University of Florence, Italy;4. Agenzia Recupero e Riabilitazione, Azienda Ospedaliero-Universitaria Careggi, Florence, Italy;5. Radiodiagnostic Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy;6. S. Maria agli Ulivi Center, Fondazione Don Carlo Gnocchi, Onlus, IRCCS, Florence, Italy;1. Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), 38000 Faisalabad, Pakistan;2. Department of Immunology, Genetics and Pathology, The Rudbeck Laboratory and Science for Life Laboratory, Uppsala University, 751 85 Uppsala, Sweden;1. CHU Bordeaux, Génétique médicale, F-33000 Bordeaux, France;2. Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576, F-33000 Bordeaux, France;3. CHU Bordeaux, Gynécologie-Obstétrique, F-33000 Bordeaux, France;1. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schoepfstr. 41, A-6020 Innsbruck, Austria;2. Laboratory for Molecular Biology and Tumorcytogenetics, Department of Internal Medicine, Hospital of the Sisters of Charity, Linz, Austria;3. Department of Human Genetics, General Women and Children Hospital, Linz, Austria;1. Pathology Laboratory, Rouen University Hospital, France;2. Department of Genetics, Rouen University Hospital, France;3. Inserm U1079, Rouen, France;4. Normandie University, IRIB, Rouen, France;5. Department of Radiology, Rouen University Hospital, France;6. Department of Medical Genetics, Le Havre Hospital, France;7. Region-Inserm Team ERI28, Laboratory of Microvascular Endothelium and Neonate Brain Lesions, Institute of Research for Innovation in Biomedicine, University of Rouen, Rouen, France
Abstract:
Keywords:Whole-exome sequencing  Hereditary spastic paraplegia  Genetic heterogeneity
本文献已被 ScienceDirect 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号