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J-GLOBAL ID：201702249261348705
整理番号：17A1556494
PPP3CAにおけるde novo突然変異は重度の神経発達疾患発作を引き起こす【Powered by NICT】
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
Myers Candace T.
(Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA)
,
Stong Nicholas
(Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA)
,
Mountier Emily I.
(Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand)
,
Helbig Katherine L.
(Ambry Genetics, Aliso Viejo, CA 92656, USA)
,
Freytag Saskia
(The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia)
,
Freytag Saskia
(Department of Medical Biology, The University of Melbourne, Parkville, VIC 3050, Australia)
,
Sullivan Joseph E.
(Department of Neurology & Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA)
,
Ben Zeev Bruria
(Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel)
,
Nissenkorn Andreea
(Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel)
,
Tzadok Michal
(Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel)
,
Heimer Gali
(Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel)
,
Shinde Deepali N.
(Ambry Genetics, Aliso Viejo, CA 92656, USA)
,
Rezazadeh Arezoo
(Division of Neurology, Epilepsy Genetics Research Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, ON M5T 2S8, Canada)
,
Regan Brigid M.
(Division of Neurology, Epilepsy Genetics Research Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, ON M5T 2S8, Canada)
,
Oliver Karen L.
(The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia)
,
Oliver Karen L.
(Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia)
,
Ernst Michelle E.
(Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA)
,
Lippa Natalie C.
(Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA)
,
Mulhern Maureen S.
(Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA)
,
Ren Zhong
(Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA)
,
Poduri Annapurna
(Epilepsy Genetics Program, Department of Neurology, Boston Children’s Hospital and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA)
,
Andrade Danielle M.
(Division of Neurology, Epilepsy Genetics Research Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, ON M5T 2S8, Canada)
,
Bird Lynne M.
(Department of Pediatrics, University of California, San Diego, San Diego, CA 92037, USA)
,
Bird Lynne M.
(Rady Children’s Hospital, San Diego, CA 92037, USA)
,
Bahlo Melanie
(The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia)
,
Bahlo Melanie
(Department of Medical Biology, The University of Melbourne, Parkville, VIC 3050, Australia)
,
Berkovic Samuel F.
(Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia)
,
Lowenstein Daniel H.
(Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA)
,
Scheffer Ingrid E.
(Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia)
,
Scheffer Ingrid E.
(Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC 3010, Australia)
,
Scheffer Ingrid E.
(Department of Paediatrics, Royal Children’s Hospital, The University of Melbourne, Parkville, VIC 3050, Australia)
,
Sadleir Lynette G.
(Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand)
,
Goldstein David B.
(Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA)
,
Mefford Heather C.
(Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA)
,
Heinzen Erin L.
(Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA)
,
Heinzen Erin L.
(Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA)
資料名：
American Journal of Human Genetics
(American Journal of Human Genetics)
巻： 101 号： 4 ページ： 516-524 発行年： 2017年
JST資料番号： B0360B ISSN： 0002-9297 資料種別： 逐次刊行物 (A)
記事区分： 原著論文 発行国： オランダ (NLD) 言語： 英語 (EN)
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