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Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

2005; Wiley; Volume: 135A; Issue: 1 Linguagem: Inglês

10.1002/ajmg.a.30637

1552-4833

Noriko Miyake, Remco Visser, Akira Kinoshita, Ko‐ichiro Yoshiura, Norio Niikawa, Tatsuro Kondoh, Naomichi Matsumoto, Naoki Harada, Nobuhiko Okamoto, Tohru Sonoda, Kenji Naritomi, Tadashi Kaname, Yasutsugu Chinen, Hidefumi Tonoki, Kenji Kurosawa,

RNA Research and Splicing

American Journal of Medical Genetics Part AVolume 135A, Issue 1 p. 103-105 Research Letter Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome Noriko Miyake, Noriko Miyake Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorRemco Visser, Remco Visser Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, Japan Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorAkira Kinoshita, Akira Kinoshita Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorKo-ichiro Yoshiura, Ko-ichiro Yoshiura Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorNorio Niikawa, Norio Niikawa Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorTatsuro Kondoh, Tatsuro Kondoh Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorNaomichi Matsumoto, Corresponding Author Naomichi Matsumoto naomat@yokohama-cu.ac.jp CREST, Japan Science and Technology Agency, Kawaguchi, Japan Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.Search for more papers by this authorNaoki Harada, Naoki Harada Kyushu Medical Science Nagasaki Laboratory, Nagasaki, JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, JapanSearch for more papers by this authorTohru Sonoda, Tohru Sonoda Department of Pediatrics, Miyazaki Medical College, Miyazaki, JapanSearch for more papers by this authorKenji Naritomi, Kenji Naritomi Department of Medical Genetics, University of the Ryukyus School of Medicine, Okinawa, JapanSearch for more papers by this authorTadashi Kaname, Tadashi Kaname Department of Medical Genetics, University of the Ryukyus School of Medicine, Okinawa, JapanSearch for more papers by this authorYasutsugu Chinen, Yasutsugu Chinen Department of Pediatrics, University of the Ryukyus School of Medicine Okinawa, JapanSearch for more papers by this authorHidefumi Tonoki, Hidefumi Tonoki Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, JapanSearch for more papers by this authorKenji Kurosawa, Kenji Kurosawa Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, JapanSearch for more papers by this author Noriko Miyake, Noriko Miyake Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorRemco Visser, Remco Visser Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, Japan Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorAkira Kinoshita, Akira Kinoshita Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorKo-ichiro Yoshiura, Ko-ichiro Yoshiura Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorNorio Niikawa, Norio Niikawa Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorTatsuro Kondoh, Tatsuro Kondoh Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorNaomichi Matsumoto, Corresponding Author Naomichi Matsumoto naomat@yokohama-cu.ac.jp CREST, Japan Science and Technology Agency, Kawaguchi, Japan Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.Search for more papers by this authorNaoki Harada, Naoki Harada Kyushu Medical Science Nagasaki Laboratory, Nagasaki, JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, JapanSearch for more papers by this authorTohru Sonoda, Tohru Sonoda Department of Pediatrics, Miyazaki Medical College, Miyazaki, JapanSearch for more papers by this authorKenji Naritomi, Kenji Naritomi Department of Medical Genetics, University of the Ryukyus School of Medicine, Okinawa, JapanSearch for more papers by this authorTadashi Kaname, Tadashi Kaname Department of Medical Genetics, University of the Ryukyus School of Medicine, Okinawa, JapanSearch for more papers by this authorYasutsugu Chinen, Yasutsugu Chinen Department of Pediatrics, University of the Ryukyus School of Medicine Okinawa, JapanSearch for more papers by this authorHidefumi Tonoki, Hidefumi Tonoki Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, JapanSearch for more papers by this authorKenji Kurosawa, Kenji Kurosawa Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, JapanSearch for more papers by this author First published: 18 February 2005 https://doi.org/10.1002/ajmg.a.30637Citations: 25Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the 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