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

Autor: Tusseau, M., Eyries, M., Chatron, N., Coulet, F., Guichet, A., Colin, E., Demeer, B., Maillard, H., Thevenon, J., Lavigne, C., Saillour, V., Paris, C., De Sainte Agathe, J.M., Pujalte, M., Guilhem, A., Dupuis-Girod, S., Lesca, G.
Zdroj: In European Journal of Medical Genetics April 2024 68
Databáze: ScienceDirect