A structural mapping of mutations causing succinyl-CoA: 3-ketoacid CoA transferase (SCOT) deficiency
- Author
- SHAFQAT, Naeem1 ; KAVANAGH, Kate L1 ; SASS, Jörn Oliver2 3 ; CHRISTENSEN, Ernst4 ; FUKAO, Toshiyuki5 6 ; WEN HWA LEE1 ; OPPERMANN, Udo1 7 ; YUE, Wyatt W1
[1] Structural Genomics Consortium, University of Oxford, Oxford OX3 7DQ, United Kingdom
[2] Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, 79106 Freiburg, Germany
[3] Klinische Chemie & Biochemie, Universitäts-Kinderspital, 8032 Zürich, Switzerland
[4] Department of Clinical Genetics, Juliane Marie Centre, 2100 Copenhagen, Denmark
[5] Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan
[6] Medical information Sciences Division, United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu 501-1194, Japan
[7] Botnar Research Centre, Oxford Biomedical Research Unit, OX3 7LD Oxford, United Kingdom - Source
Journal of inherited metabolic disease. 2013, Vol 36, Num 6, pp 983-987, 5 p ; ref : 3/4 p
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Cartographie CoA-transferases Cétoacide Déficit Génétique Maladie héréditaire Maladie métabolique Mutation Nutrition Enzyme Transferases
- Keyword (en)
- Cartography CoA-transferases Ketoacid Deficiency Genetics Genetic disease Metabolic diseases Mutation Nutrition Enzyme Transferases
- Keyword (es)
- Cartografía CoA-transferases Cetoácido Déficiencia Genética Enfermedad hereditaria Metabolismo patología Mutación Nutrición Enzima Transferases
- Classification
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 27909828
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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