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A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

Skeletal muscle mtDNA of three patients with mitochondrial encephalomyopathy, characterized clinically by myoclonic epilepsy and ragged-red fiber (MERRF) syndrome, has been sequenced to determine the underlying molecular defect(s). An A-to-G substitution of nt 8344 in the tRNA(Lys) gene, a substitut...

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Detaylı Bibliyografya
Asıl Yazarlar: Noer, A S, Sudoyo, H, Lertrit, P, Thyagarajan, D, Utthanaphol, P, Kapsa, R, Byrne, E, Marzuki, S
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1991
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683178/
https://ncbi.nlm.nih.gov/pubmed/1910259
Etiketler: Etiketle
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