Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy

Giovanni Manfredi, Eric A. Schon, Eduardo Bonilla, Carlos T Moraes, Sara Shanske, Salvatore DiMauro

Research output: Contribution to journalArticle

43 Citations (Scopus)
Original languageEnglish
Pages (from-to)158-163
Number of pages6
JournalHuman Mutation
Volume7
Issue number2
StatePublished - Dec 1 1996

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RNA, Transfer, Cys
Molecular Sequence Data
Mitochondrial Encephalomyopathies
Muscle Mitochondrion
Single-Stranded Conformational Polymorphism
Succinate Dehydrogenase
Molecular Evolution
Preschool Children
Electron Transport Complex IV
Mitochondrial DNA
Restriction Fragment Length Polymorphisms
Polymerase Chain Reaction
Mutation
Genes
Mitochondrial encephalopathy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S., & DiMauro, S. (1996). Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy. Human Mutation, 7(2), 158-163.

Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy. / Manfredi, Giovanni; Schon, Eric A.; Bonilla, Eduardo; Moraes, Carlos T; Shanske, Sara; DiMauro, Salvatore.

In: Human Mutation, Vol. 7, No. 2, 01.12.1996, p. 158-163.

Research output: Contribution to journalArticle

Manfredi, G, Schon, EA, Bonilla, E, Moraes, CT, Shanske, S & DiMauro, S 1996, 'Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy', Human Mutation, vol. 7, no. 2, pp. 158-163.
Manfredi, Giovanni ; Schon, Eric A. ; Bonilla, Eduardo ; Moraes, Carlos T ; Shanske, Sara ; DiMauro, Salvatore. / Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy. In: Human Mutation. 1996 ; Vol. 7, No. 2. pp. 158-163.
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