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

Human Mutation

Volumn 7, Issue 2, 1996, Pages 158-163

  Manfredi, Giovanni ^a   Schon, Eric A ^a   Bonilla, Eduardo ^a   Moraes, Carlos T ^b   Shanske, Sara ^a   DiMauro, Salvatore ^a  

^a Columbia Univ Coll Phys Surgs ^*  (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL RNA; TRANSFER RNA;

ARTICLE; CASE REPORT; CHILD; ENCEPHALOMYOPATHY; FEMALE; GENETIC ANALYSIS; GRAND MAL EPILEPSY; HEMIPARESIS; HUMAN; MUSCLE BIOPSY; NAUSEA; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; VOMITING;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; EVOLUTION, MOLECULAR; FEMALE; HUMANS; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR SEQUENCE DATA; MUSCLE FIBERS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA, TRANSFER, CYS; SUCCINATE DEHYDROGENASE;

EID: 0029919367     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)7:2<158::aid-humu12>3.0.co;2-1     Document Type: Article

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