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Results 1 - 9 of 9 for Mitochondrial complex 4 "deficiency," nuclear type 4
  1. ... III deficiency nuclear type 3 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear type 4 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear ...
  2. ... fatal infantile, due to cytochrome c oxidase deficiency 4 Genetic Testing Registry: Cardioencephalomyopathy, fatal ... MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE ...
  3. ... Carrozzo R. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. Neurogenetics. 2012 Nov;13(4):375-86. doi: 10.1007/s10048-012-0343-8. Epub 2012 Sep 18. Citation on PubMed
  4. ... Legrand A, Benit P, Rustin P, Slama A. Mitochondrial complex I deficiency of nuclear ... J Bioenerg Biomembr. 2014 Aug;46(4):323-8. doi: 10.1007/s10863-014-9564- ...
  5. ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5 LEIGH SYNDROME, NUCLEAR; NULS PubMed Ball ...
  6. ... I deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20 PubMed Aintablian HK, Narayanan V, Belnap ...
  7. ... mitochondrial complex III assembly Tests of BCS1L PubMed MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 BCS1 HOMOLOG, UBIQUINOL-CYTOCHROME C REDUCTASE ...
  8. ... SDH1 SDH2 SDHF succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial succinate dehydrogenase complex flavoprotein ... Belinsky MG, Rink L, von Mehren M. Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. Front ...
  9. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Birth Defects/Reference Desk ... Birth Defects ... Genetic Counseling/Reference Desk ... Genetic Counseling ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy