Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

  1. Gunning, A.C.
  2. Strucinska, K.
  3. Muñoz Oreja, M.
  4. Parrish, A.
  5. Caswell, R.
  6. Stals, K.L.
  7. Durigon, R.
  8. Durlacher-Betzer, K.
  9. Cunningham, M.H.
  10. Grochowski, C.M.
  11. Baptista, J.
  12. Tysoe, C.
  13. Baple, E.
  14. Lahiri, N.
  15. Homfray, T.
  16. Scurr, I.
  17. Armstrong, C.
  18. Dean, J.
  19. Fernandez Pelayo, U.
  20. Jones, A.W.E.
  21. Taylor, R.W.
  22. Misra, V.K.
  23. Yoon, W.H.
  24. Wright, C.F.
  25. Lupski, J.R.
  26. Spinazzola, A.
  27. Harel, T.
  28. Holt, I.J.
  29. Ellard, S.
  30. Erakutsi egile guztiak +
Aldizkaria:
American Journal of Human Genetics

ISSN: 1537-6605,  0002-9297

Argitalpen urtea: 2020

Alea: 106

Zenbakia: 2

Orrialdeak: 272-279

Mota: Artikulua

DOI: 10.1016/J.AJHG.2020.01.007 GOOGLE SCHOLAR lock_openSarbide irekia editor

Garapen Iraunkorreko Helburuak

Datuen iturria: Scopus