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J-GLOBAL ID：201302268394222574   整理番号：13A0019358

DHTKD1突然変異は2-アミノアピジン酸性で2-オキソアピジン酸性の尿症を引き起こす

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

著者 (19件)： DANHAUSER Katharina (Inst. of Human Genetics, Technische Universitaet Muenchen, 81675 Munich, DEU) ,  DANHAUSER Katharina (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  SAUER Sven W. (Dep. of General Pediatrics, Div. of Inherited Metabolic Diseases, Univ. Children’s Hospital, 69120 Heidelberg, DEU) ,  HAACK Tobias B. (Inst. of Human Genetics, Technische Universitaet Muenchen, 81675 Munich, DEU) ,  HAACK Tobias B. (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  WIELAND Thomas (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  STAUFNER Christian (Dep. of General Pediatrics, Div. of Inherited Metabolic Diseases, Univ. Children’s Hospital, 69120 Heidelberg, DEU) ,  GRAF Elisabeth (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  ZSCHOCKE Johannes (Div. of Human Genetics, Medical Univ. Innsbruck, 6020 Innsbruck, AUT) ,  STROM Tim M. (Inst. of Human Genetics, Technische Universitaet Muenchen, 81675 Munich, DEU) ,  STROM Tim M. (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  TRAUB Thorsten (Dep. of General Pediatrics, Div. of Inherited Metabolic Diseases, Univ. Children’s Hospital, 69120 Heidelberg, DEU) ,  OKUN Juergen G. (Dep. of General Pediatrics, Div. of Inherited Metabolic Diseases, Univ. Children’s Hospital, 69120 Heidelberg, DEU) ,  MEITINGER Thomas (Inst. of Human Genetics, Technische Universitaet Muenchen, 81675 Munich, DEU) ,  MEITINGER Thomas (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  HOFFMANN Georg F. (Dep. of General Pediatrics, Div. of Inherited Metabolic Diseases, Univ. Children’s Hospital, 69120 Heidelberg, DEU) ,  PROKISCH Holger (Inst. of Human Genetics, Technische Universitaet Muenchen, 81675 Munich, DEU) ,  PROKISCH Holger (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  KOELKER Stefan (Dep. of General Pediatrics, Div. of Inherited Metabolic Diseases, Univ. Children’s Hospital, 69120 Heidelberg, DEU)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 91  号： 6  ページ： 1082-1087  発行年： 2012年12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)

タイトルに関連する用語 (3件)： 突然変異 ,  酸性 ,  尿