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Pontocerebellar hypoplasia type 2 and TSEN2: Review of the literature and two novel mutations
Authors:Tatjana Bierhals  Georg Christoph Korenke  Gökhan Uyanik  Kerstin Kutsche
Affiliation:1. Laboratory of Pediatric Nephrology, Institute of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China;2. Labway Clinical Laboratories Inc., Shanghai, China;1. Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia PA USA;2. Division of Human Genetics The Children’s Hospital of Philadelphia Philadelphia PA USA;3. Department of Pathology and Laboratory Medicine Perelman School of Medicine, University of Pennsylvania Philadelphia PA USA;4. Division of Genomic Diagnostics The Children’s Hospital of Philadelphia Philadelphia PA USA;5. Division of Genetics, Department of Pediatrics Rush University Medical Center Chicago IL USA;6. Department of Biomedical and Health Informatics The Children’s Hospital of Philadelphia Philadelphia PA USA;7. Department of Pathology Memorial Sloan Kettering Cancer Center New York NY USA;8. Division of Genetics Cooper University Health Care Camden NY USA
Abstract:
Keywords:Pontocerebellar hypoplasia type 2  tRNA splicing endonuclease  Biallelic mutations
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