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A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNAVal mutation

✍ Scribed by Najla Mezghani; Mouna Mnif; Maha Kacem; Emna Mkaouar-Rebai; Ikhlass Hadj Salem; Nozha Kallel; Nadia charfi; Mohamed Abid; Faiza fakhfakh


Book ID
116301612
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
640 KB
Volume
407
Category
Article
ISSN
0006-291X

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A specific point mutation in the mitocho
✍ C. Enter; J. MΓΌller-HΓΆcker; S. Zierz; G. Kurlemann; D. Pongratz; C. FΓΆrster; B. πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 427 KB

The mitochondrial DNA (mtDNA) of Japanese patients suffering from the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) exhibits a specific heteroplasmic A----G transition in the tRNA(Leu) at position 3243. In this study, we investigated mtDNA from