Deficiency of the α subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

American Journal of Human Genetics

Volumn 81, Issue 2, 2007, Pages 383-387

  Ostergaard, Elsebet ^a,b   Christensen, Ernst ^a   Kristensen, Elisabeth ^a   Mogensen, Bodil ^a   Duno, Morten ^a   Shoubridge, Eric A ^c   Wibrand, Flemming ^a,b  

^a Rigshospitalet   (Denmark)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; NUCLEOSIDE DIPHOSPHATE KINASE; SUCCINYL COENZYME A SYNTHETASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MAPPING; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LACTIC ACIDOSIS; MALE; METABOLIC DISORDER; MITOCHONDRIAL DNA DEPLETION; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SUCLG1 GENE;

EID: 34547736513     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/519222     Document Type: Article

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