文献
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)