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Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis
Authors:Liron Abuhatzira  Kirill Makedonski  Yael Petel Galil  Eva Gak  Bruria Ben Zeev  Aharon Razin  Ruth Shemer
Institution:(1) Department of Cellular Biochemistry and Human Genetics,Hadassah Medical School, The Hebrew University, Jerusalem, Israel, 91120;(2) Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel;(3) Pediatric Neurology Unit, Sheba Medical Center, Ramat-Gan, Israel
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