Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality

Archives of Neurology

Volumn 61, Issue 6, 2004, Pages 950-952

  Tay, Stacey K H ^a   Shanske, Sara ^a   Kaplan, Paige ^b   DiMauro, Salvatore ^a  

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

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COPPER; CYTOCHROME C OXIDASE; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN;

ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE SEVERITY; FATALITY; FEMALE; FETUS; FETUS WASTAGE; FIRST TRIMESTER PREGNANCY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LETHALITY; METABOLIC ACIDOSIS; MISSENSE MUTATION; MUSCLE HYPOTONIA; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY FAILURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCO2 GENE; SPONTANEOUS ABORTION;

ABORTED FETUS; ABORTION, SPONTANEOUS; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; FATAL OUTCOME; FEMALE; HUMANS; MITOCHONDRIAL PROTEINS; MUTATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEINS;

EID: 2942590933     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.61.6.950     Document Type: Article

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