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Results 1 - 8 of 8 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; LS PubMed Ball M, ...
  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. 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