Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

  1. Johnson, K.
  2. Bertoli, M.
  3. Phillips, L.
  4. Töpf, A.
  5. Van den Bergh, P.
  6. Vissing, J.
  7. Witting, N.
  8. Nafissi, S.
  9. Jamal-Omidi, S.
  10. Łusakowska, A.
  11. Kostera-Pruszczyk, A.
  12. Potulska-Chromik, A.
  13. Deconinck, N.
  14. Wallgren-Pettersson, C.
  15. Strang-Karlsson, S.
  16. Colomer, J.
  17. Claeys, K.G.
  18. De Ridder, W.
  19. Baets, J.
  20. von der Hagen, M.
  21. Fernández-Torrón, R.
  22. Zulaica Ijurco, M.
  23. Espinal Valencia, J.B.
  24. Hahn, A.
  25. Durmus, H.
  26. Willis, T.
  27. Xu, L.
  28. Valkanas, E.
  29. Mullen, T.E.
  30. Lek, M.
  31. MacArthur, D.G.
  32. Straub, V.
  33. Erakutsi egile guztiak +
Aldizkaria:
Skeletal Muscle

ISSN: 2044-5040

Argitalpen urtea: 2018

Alea: 8

Zenbakia: 1

Mota: Artikulua

DOI: 10.1186/S13395-018-0170-1 GOOGLE SCHOLAR lock_openSarbide irekia editor

Garapen Iraunkorreko Helburuak

Datuen iturria: Scopus