TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.

Difrancesco, Jc; Novara, Francesca; Zuffardi, Orsetta; Forlino, Antonella; Gioia, Roberta; Cossu, F; Bolognesi, M; Andreoni, S; Saracchi, E; Frigeni, B; Stellato, T; Tolnay, M; Winkler, Dt; Remida, P; Isimbaldi, G; Ferrarese, C.