Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

  1. Ling, T.-K.
  2. Law, C.-Y.
  3. Yan, K.-W.
  4. Fong, N.-C.
  5. Wong, K.-C.
  6. Lee, K.-L.
  7. Chu, W.C.-W.
  8. Brea-Calvo, G.
  9. Lam, C.-W.
Revue:
Clinica Chimica Acta

ISSN: 1873-3492 0009-8981

Année de publication: 2019

Volumen: 497

Pages: 88-94

Type: Article

DOI: 10.1016/J.CCA.2019.07.016 GOOGLE SCHOLAR