Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS

Biochemical and Biophysical Research Communications

Volumn 238, Issue 2, 1997, Pages 326-328

  Santorelli, Filippo M ^a,c   Tanji, Kurenai ^a   Kulikova, Romana ^a   Shanske, Sara ^a   Vilarinho, Laura ^b   Hays, Arthur P ^a   DiMauro, Salvatore ^a,d  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d 4 420 Columbia Univ Coll of P ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; AUTOPSY; BRAIN; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME SUBUNIT; FEMALE; GENE MUTATION; GENETIC CONSERVATION; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; MELAS SYNDROME; MISSENSE MUTATION; MUSCLE; POINT MUTATION; PRIORITY JOURNAL; TISSUE DISTRIBUTION;

EID: 0031577593     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1997.7167     Document Type: Article

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