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Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy
Authors:Rajech Sharkia  Stavit A. Shalev  Abdelnaser Zalan  Milit Marom‐David  Nathan Watemberg  Jill E. Urquhart  Sarah B. Daly  Sanjeev S. Bhaskar  Simon G. Williams  William G. Newman  Ronen Spiegel  Abdussalam Azem  Orly Elpeleg  Muhammad Mahajnah
Affiliation:1. The Triangle Regional Research and Development Center, Kfar Qari', Israel;2. Beit‐Berl Academic College, Beit‐Berl, Israel;3. Genetic Institute, Emek Medical Center, Afula, Israel;4. Rappaport Faculty of Medicine, Technion—Israel Institute of Technology, Haifa, Israel;5. Faculty of Life Sciences, Department of Biochemistry and Molecular Biology, Tel‐Aviv University, Tel‐Aviv, Israel;6. Sakler Faculty of Medicine, Child neurology Unit Mier Medical Cener, Tel‐Aviv University, Tel‐Aviv, Israel;7. Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, St. Mary's Hospital, Manchester, UK;8. Institute of Human Development, Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK;9. Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel;10. Child Neurology and Development Center, Hillel‐Yaffe Medical Center, Hadera, Israel
Abstract:
Keywords:peripheral neuropathy  PTRH2 gene  sensorineural hearing loss
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