A novel mutation in the mitochondrial dna transfer ribonucleic acid(Asp) gene in a child with myoclonic epilepsy and psychomotor regression

Journal of Child Neurology

Volumn 14, Issue 9, 1999, Pages 610-613

  Shtilbans, Alexander ^a   El Schahawi, Magda ^a   Malkin, Elfrida ^a   Shanske, Sara ^a   Musumeci, Olimpia ^a   DiMauro, Salvatore ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; RNA;

ARTICLE; CASE REPORT; CELL PROLIFERATION; CHILD; DNA TRANSFER; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HISTOCHEMISTRY; HUMAN; MOLECULAR GENETICS; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; TISSUE SPECIFICITY;

EID: 0032860832     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389901400910     Document Type: Article

References (13)

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