Identification of a mutation in the mitochondrial tRNA (Cys) gene associated with mitochondrial encephalopathy
G Manfredi, EA Schon, E Bonilla, CT Moraes… - Human …, 1996 - scholarship.miami.edu
G Manfredi, EA Schon, E Bonilla, CT Moraes, S Shanske, S DiMauro
Human mutation, 1996•scholarship.miami.eduAbstract Humans Mitochondrial Encephalomyopathies-genetics Mitochondrial
Encephalomyopathies-enzymology Child, Preschool Molecular Sequence Data RNA,
Transfer, Cys-genetics Electron Transport Complex IV-metabolism Mitochondrial
Encephalomyopathies-pathology Polymorphism, Single-Stranded Conformational DNA,
Mitochondrial-genetics RNA, Transfer, Cys-chemistry Polymorphism, Restriction Fragment
Length Base Sequence Muscle Fibers, Skeletal-pathology Polymerase Chain Reaction …
Encephalomyopathies-enzymology Child, Preschool Molecular Sequence Data RNA,
Transfer, Cys-genetics Electron Transport Complex IV-metabolism Mitochondrial
Encephalomyopathies-pathology Polymorphism, Single-Stranded Conformational DNA,
Mitochondrial-genetics RNA, Transfer, Cys-chemistry Polymorphism, Restriction Fragment
Length Base Sequence Muscle Fibers, Skeletal-pathology Polymerase Chain Reaction …
Abstract
Humans Mitochondrial Encephalomyopathies-genetics Mitochondrial Encephalomyopathies-enzymology Child, Preschool Molecular Sequence Data RNA, Transfer, Cys-genetics Electron Transport Complex IV-metabolism Mitochondrial Encephalomyopathies-pathology Polymorphism, Single-Stranded Conformational DNA, Mitochondrial-genetics RNA, Transfer, Cys-chemistry Polymorphism, Restriction Fragment Length Base Sequence Muscle Fibers, Skeletal-pathology Polymerase Chain Reaction Female Mitochondria, Muscle-ultrastructure Succinate Dehydrogenase-metabolism Mutation Evolution, Molecular Muscle Fibers, Skeletal-enzymology
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