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A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency
Authors:Taku Nakagawa  Mariko Taniguchi‐Ikeda  Yoshiko Murakami  Shota Nakamura  Daisuke Motooka  Tomomi Emoto  Wataru Satake  Masahiro Nishiyama  Daisaku Toyoshima  Naoya Morisada  Satoshi Takada  Shinya Tairaku  Nobuhiko Okamoto  Ichiro Morioka  Hiroki Kurahashi  Tatsushi Toda  Taroh Kinoshita  Kazumoto Iijima
Affiliation:1. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan;2. Division of Genetic Counseling, Kobe University Hospital, Kobe, Japan;3. Department of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan;4. Correspondence to:;5. Mariko Taniguchi‐Ikeda, M.D., Ph.D., Kobe University Graduate School of Medicine, Department of Pediatrics, 7‐5‐2, Kusunoki‐Cho, Chuo‐ku, Kobe, Kobe 650‐0017, Japan. E‐mail:;6. Yoshiko Murakami, M.D., Ph.D., Osaka University, Research Institute for Microbial Diseases, Department of Immunoregulation, 3‐1, Yamadaoka, Suita, Osaka 565‐0871, Japan. E‐mail:;7. Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan;8. Laboratory of Immunoglycobiology, WPI Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan;9. Department of Infection Metagenomics, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan;10. Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, Kobe, Japan;11. Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan;12. Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan
Abstract:
Keywords:developmental defect  PIGN  prenatal diagnosis  genetic counseling  inherited GPI deficiency
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