Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families

  1. Tusseau, M.
  2. Eyries, M.
  3. Chatron, N.
  4. Coulet, F.
  5. Guichet, A.
  6. Colin, E.
  7. Demeer, B.
  8. Maillard, H.
  9. Thevenon, J.
  10. Lavigne, C.
  11. Saillour, V.
  12. Paris, C.
  13. De Sainte Agathe, J.M.
  14. Pujalte, M.
  15. Guilhem, A.
  16. Dupuis-Girod, S.
  17. Lesca, G.
Revue:
European Journal of Medical Genetics

ISSN: 1878-0849 1769-7212

Année de publication: 2024

Volumen: 68

Type: Article

DOI: 10.1016/J.EJMG.2024.104919 GOOGLE SCHOLAR lock_openAccès ouvert editor