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A loss‐of‐function mutation in the SLC9A6 gene causes X‐linked mental retardation resembling Angelman syndrome
Authors:Yumi Takahashi  Kana Hosoki  Masafumi Matsushita  Makoto Funatsuka  Kayoko Saito  Hiroshi Kanazawa  Yu‐ichi Goto  Shinji Saitoh
Affiliation:1. Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan;2. Deparrtment of Biological Sciences, Graduate School of Science, Osaka University, Osaka, Japan;3. Department of Pediatrics, Tokyo Womens' Medical University, Tokyo, Japan;4. Institute of Medical Genetics, Tokyo Womens' Medical University, Tokyo, Japan;5. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
Abstract:
Keywords:SLC9A6  sodium/hydrogen exchanger 6  Angelman syndrome  X‐linked mental retardation  nonsense mediated mRNA decay
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