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J-GLOBAL ID：201202268783780143   整理番号：12A0934011

ミトコンドリアtRNA修飾因子MTO1の突然変異は肥大型心筋症と乳酸アシドーシスをもたらす

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

著者 (17件)： GHEZZI Daniele (Unit of Molecular Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto ...) ,  BARUFFINI Enrico (Dep. of Genetics, Biology of Microorganisms, Anthropology, and Evolution, Univ. of Parma, 43124 Parma, ITA) ,  HAACK Tobias B. (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, DEU) ,  HAACK Tobias B. (Inst. of Human Genetics, Technische Universitaet Muenchen, 80333 Munich, DEU) ,  INVERNIZZI Federica (Unit of Molecular Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto ...) ,  MELCHIONDA Laura (Unit of Molecular Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto ...) ,  DALLABONA Cristina (Dep. of Genetics, Biology of Microorganisms, Anthropology, and Evolution, Univ. of Parma, 43124 Parma, ITA) ,  STROM Tim M. (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, DEU) ,  STROM Tim M. (Inst. of Human Genetics, Technische Universitaet Muenchen, 80333 Munich, DEU) ,  PARINI Rossella (Rare Metabolic Diseases Unit, Pediatric Clinic, San Gerardo Hospital, Univ. of Milano-Bicocca, 20090 Monza, ITA) ,  BURLINA Alberto B. (Metabolic Diseases Unit, Dep. of Paediatrics, Univ. of Padua School of Medicine, 35128 Padua, ITA) ,  MEITINGER Thomas (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, DEU) ,  MEITINGER Thomas (Inst. of Human Genetics, Technische Universitaet Muenchen, 80333 Munich, DEU) ,  PROKISCH Holger (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, DEU) ,  PROKISCH Holger (Inst. of Human Genetics, Technische Universitaet Muenchen, 80333 Munich, DEU) ,  FERRERO Ileana (Dep. of Genetics, Biology of Microorganisms, Anthropology, and Evolution, Univ. of Parma, 43124 Parma, ITA) ,  ZEVIANI Massimo (Unit of Molecular Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto ...)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 90  号： 6  ページ： 1079-1087  発行年： 2012年06月08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 (5件)： ミトコンドリア ,  tRNA ,  突然変異 ,  肥大型心筋症 ,  乳酸アシドーシス