Novel mutations in FA2H-associated neurodegeneration: An underrecognized condition?

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作者： Rupps,R. ^[1] ; Hukin,J. ^[2] ; Balicki,M. ^[3] ; Mercimek-Mahmutoglu,S. ^[4] ; Rolfs,A. ^[5] ; Dias,C. ^[6]

作者单位： Department of Medical Genetics, University of British Columbia, Canada, Child and Family Research ^[1] Child and Family Research Institute, Vancouver, Canada, Division of Neurology, Department of ^[2] Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Canada ^[3] Albrecht-Kossel-Institute for Neuroregulation, University of Rostock, Mecklenburg-Vorpommern ^[4] Department of Medical Genetics, University of British Columbia, Canada, Rare Disease Foundation ^[5] Department of Medical Genetics, University of British Columbia, Canada ^[6]

关键词 FA2H hereditary spastic paraplegia HSP leukodystrophy spastic paraparesis with dystonia SPG35

发布时间 2014-01-21

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