首页 | 本学科首页   官方微博 | 高级检索  
     


Atypical presentation of infantile‐onset farber disease with novel ASAH1 mutations
Authors:Soo Yeon Kim  Sun Ah Choi  Sangmoon Lee  Jin Sook Lee  Che Ry Hong  Byung Chan Lim  Hyoung Jin Kang  Ki Joong Kim  Sung‐Hye Park  Murim Choi  Jong‐Hee Chae
Affiliation:1. Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea;2. Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea;3. Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea;4. Department of Pediatrics, Cancer Research Institute, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea;5. Department of Pathology, Seoul National University, College of Medicine, Seoul, Korea;6. Correspondence to:;7. Jong‐Hee Chae, M.D., Ph.D., Division of Pediatric Neurology, Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, 101 Daehakro Jongno‐gu, Seoul 110‐744, Korea.;8. E‐mail:
Abstract:
Keywords:farber disease  farber lipogranulomatosis  ASAH1  whole‐exome sequencing
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