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J-GLOBAL ID：201302294897478399
整理番号：13A0484276
AUTS2内のエキソンの欠失は知的障害の症候群型を引き起こし、C Terminusの重要な役割を示唆する
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
BEUNDERS Gea
(Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD)
,
VOORHOEVE Els
(Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD)
,
GOLZIO Christelle
(Center for Human Disease Modeling, Dep. of Cell Biology, Duke Univ. Medical Center, Durham, NC 27710, USA)
,
PARDO Luba M.
(Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD)
,
ROSENFELD Jill A.
(Signature Genomic Laboratories, Perkin Elmer, Spokane, WA 99207, USA)
,
TALKOWSKI Michael E.
(Center for Human Genetic Res., Massachusetts General Hospital, affiliated with Departments of Genetics and Neurology ...)
,
TALKOWSKI Michael E.
(Program in Medical and Population Genetics, Broad Inst., Cambridge, MA 02142, USA)
,
SIMONIC Ingrid
(East Anglian Medical Genetics Serv., Addenbrooke’s Hospital, Cambridge Univ. Hospitals, National Health Serv. ...)
,
LIONEL Anath C.
(The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto ...)
,
LIONEL Anath C.
(Dep. of Molecular Genetics and the McLaughlin Centre, Univ. of Toronto, Toronto, ON M5S 1A1, CAN)
,
VERGULT Sarah
(Center for Medical Genetics, Univ. Hospital Ghent, Ghent 9000, BEL)
,
PYATT Robert E.
(Pathology and Lab. Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USA)
,
PYATT Robert E.
(Dep. of Pathology, The Ohio State Univ., Columbus, OH 43210, USA)
,
VAN DE KAMP Jiddeke
(Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD)
,
NIEUWINT Aggie
(Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD)
,
WEISS Marjan M.
(Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD)
,
RIZZU Patrizia
(Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD)
,
VERWER Lucilla E.N.I.
(Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD)
,
VAN SPAENDONK Rosalina M.L.
(Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD)
,
SHEN Yiping
(Center for Human Genetic Res., Massachusetts General Hospital, affiliated with Departments of Genetics and Neurology ...)
,
SHEN Yiping
(Dep. of Lab. Medicine, Boston Children’s Hospital, Boston, MA 02114, USA)
,
SHEN Yiping
(Shanghai Children’s Medical Center, Shanghai Jiaotong Univ. School of Medicine, Shanghai 200025, CHN)
,
WU Bai-lin
(Dep. of Lab. Medicine, Boston Children’s Hospital, Boston, MA 02114, USA)
,
WU Bai-lin
(Children’s Hospital and Institutes of Biomedical Sci., Fudan Univ., Shanghai 200032, CHN)
,
YU Tingting
(Dep. of Lab. Medicine, Boston Children’s Hospital, Boston, MA 02114, USA)
,
YU Tingting
(Shanghai Children’s Medical Center, Shanghai Jiaotong Univ. School of Medicine, Shanghai 200025, CHN)
,
YU Yongguo
(Dep. of Lab. Medicine, Boston Children’s Hospital, Boston, MA 02114, USA)
,
YU Yongguo
(Shanghai Children’s Medical Center, Shanghai Jiaotong Univ. School of Medicine, Shanghai 200025, CHN)
,
CHIANG Colby
(Center for Human Genetic Res., Massachusetts General Hospital, affiliated with Departments of Genetics and Neurology ...)
,
GUSELLA James F.
(Center for Human Genetic Res., Massachusetts General Hospital, affiliated with Departments of Genetics and Neurology ...)
,
GUSELLA James F.
(Program in Medical and Population Genetics, Broad Inst., Cambridge, MA 02142, USA)
,
LINDGREN Amelia M.
(Dep. of Pathology, Brigham and Women’s Hospital, Boston, MA 02115, USA)
,
LINDGREN Amelia M.
(Dep. of Obstetrics, Gynecology, and Reproductive Biology, Harvard Medical School, Boston, MA 02115, USA)
,
MORTON Cynthia C.
(Program in Medical and Population Genetics, Broad Inst., Cambridge, MA 02142, USA)
,
MORTON Cynthia C.
(Dep. of Pathology, Brigham and Women’s Hospital, Boston, MA 02115, USA)
,
MORTON Cynthia C.
(Dep. of Obstetrics, Gynecology, and Reproductive Biology, Harvard Medical School, Boston, MA 02115, USA)
,
VAN BINSBERGEN Ellen
(Dep. of Medical Genetics, Univ. Medical Center Utrecht, Utrecht 3508 AB, NLD)
,
BULK Saskia
(Dep. of Medical Genetics, Univ. Medical Center Utrecht, Utrecht 3508 AB, NLD)
,
VAN ROSSEM Els
(Onze-Lieve-Vrouwe Ziekenhuis, Aalst 9300, BEL)
,
VANAKKER Olivier
(Center for Medical Genetics, Univ. Hospital Ghent, Ghent 9000, BEL)
資料名：
American Journal of Human Genetics
(American Journal of Human Genetics)
巻： 92 号： 2 ページ： 210-220 発行年： 2013年02月07日
JST資料番号： B0360B ISSN： 0002-9297 資料種別： 逐次刊行物 (A)
発行国： オランダ (NLD) 言語： 英語 (EN)
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