ISCA2 mutations manifest differentially from DARS2 mutations
| Autor: | Sinda Zarrouk-Mahjoub, Josef Finsterer |
|---|---|
| Přispěvatelé: | Krankenanstalt Rudolfstiftung, Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP) |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Neurology MESH: Mutation [SDV]Life Sciences [q-bio] Aspartate-tRNA Ligase Biology MESH: Phenotype Biochemistry 03 medical and health sciences Cellular and Molecular Neuroscience MESH: Brain 0302 clinical medicine Leukoencephalopathies medicine Humans Lactic Acid MESH: Lactic Acid Genetics MESH: Humans MESH: Aspartate-tRNA Ligase/genetics MESH: Leukoencephalopathies Brain Phenotype 3. Good health 030104 developmental biology Mutation Mutation (genetic algorithm) Neurology (clinical) 030217 neurology & neurosurgery |
| Zdroj: | Metabolic Brain Disease Metabolic Brain Disease, Springer Verlag, 2018, 33 (5), pp.1389-1390. ⟨10.1007/s11011-018-0253-z⟩ |
| ISSN: | 0885-7490 1573-7365 |
| DOI: | 10.1007/s11011-018-0253-z⟩ |
| Popis: | International audience; Letter to the EditorComment on : Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations. [Metab Brain Dis. 2018] |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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