Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

  1. De La Morena-Barrio, B.
  2. Stephens, J.
  3. De La Morena-Barrio, M.E.
  4. Stefanucci, L.
  5. Padilla, J.
  6. Miñano, A.
  7. Gleadall, N.
  8. García, J.L.
  9. López-Fernández, M.F.
  10. Morange, P.-E.
  11. Puurunen, M.
  12. Undas, A.
  13. Vidal, F.
  14. Raymond, F.L.
  15. Vicente, V.
  16. Ouwehand, W.H.
  17. Corral, J.
  18. Sanchis-Juan, A.
Revue:
Thrombosis and Haemostasis

ISSN: 0340-6245

Année de publication: 2022

Volumen: 122

Número: 8

Pages: 1369-1378

Type: Article

DOI: 10.1055/S-0042-1749345 GOOGLE SCHOLAR lock_openAccès ouvert editor
La source de données: Scopus