Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/s41439-018-0026-6.pdf
Reference8 articles.
1. Yamamoto, M., Clemens, P. R. & Engel, A. G. Mitochondrial DNA Deletions in Mitochondrial Cytopathies: Observations in 19 Patients. Neurology 41, 1822–1828 (1991).
2. Ciafaloni, E. et al. Melas: clinical features, biochemistry, and molecular genetics. Ann. Neurol. 31, 391–398 (1992).
3. Hirano, M. & Pavlakis, S. G. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (melas): current concepts. J. Child Neurol. 9, 4–13 (1994).
4. Goto, Y., Nonaka, I. & Horai, S. A mutation in the Trna(Leu)(Uur) gene associated with the melas subgroup of mitochondrial encephalomyopathies. Nature 348, 651–653 (1990).
5. Shaag, A., Saada, A., Steinberg, A., Navon, P. & Elpeleg, O. N. Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial Trna leu (Uur) gene (A3243t). Biochem. Biophys. Res. Commun. 233, 637–639 (1997).
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