A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

  1. Duncan, A.J.
  2. Bitner-Glindzicz, M.
  3. Meunier, B.
  4. Costello, H.
  5. Hargreaves, I.P.
  6. López, L.C.
  7. Hirano, M.
  8. Quinzii, C.M.
  9. Sadowski, M.I.
  10. Hardy, J.
  11. Singleton, A.
  12. Clayton, P.T.
  13. Rahman, S.
Revue:
American Journal of Human Genetics

ISSN: 0002-9297

Année de publication: 2009

Volumen: 84

Número: 5

Pages: 558-566

Type: Article

DOI: 10.1016/J.AJHG.2009.03.018 GOOGLE SCHOLAR lock_openAccès ouvert editor

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