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Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
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Document type | Article de périodique (Journal article) |
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Access type | Accès restreint |
Publication date | 2013 |
Language | Anglais |
Journal information | "American Journal of Human Genetics" - Vol. 92, no.4, p. 627-31 (2013) |
Peer reviewed | yes |
Publisher | Cell Press ((United States) Cambridge) |
issn | 0002-9297 |
e-issn | 1537-6605 |
Publication status | Publié |
Affiliation | UCL - SSS/DDUV - Institut de Duve |
MESH Subject | Amino Acid Sequence ; Female ; Fibroblasts ; Genes, Recessive ; Glutarates ; Humans ; Male ; Mitochondria ; Mitochondrial Proteins ; Molecular Sequence Data ; Mutation ; Anion Transport Proteins ; Phenotype ; Protein Structure, Tertiary ; Retrospective Studies ; Sequence Homology, Amino Acid ; Stereoisomerism ; Tandem Mass Spectrometry ; Biological Markers ; Brain Diseases, Metabolic, Inborn ; Case-Control Studies ; Cells, Cultured ; Chromatography, Liquid ; Citric Acid ; Exome |
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Bibliographic reference | Nota, Benjamin ; Struys, Eduard A ; Pop, Ana ; Jansen, Erwin E ; Fernandez Ojeda, Matilde R ; et. al. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.. In: American Journal of Human Genetics, Vol. 92, no.4, p. 627-31 (2013) |
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Permanent URL | http://hdl.handle.net/2078.1/130105 |