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

Neurol Sci. 2015 Feb;36(2):323-30.
Jacopo C. DiFrancesco, Francesca Novara, Orsetta Zuffardi, Antonella Forlino, Roberta Gioia, Federica Cossu, Martino Bolognesi, Simona Andreoni, Enrico Saracchi, Barbara Frigeni, Tiziana Stellato, Markus Tolnay, David T. Winkler, Paolo Remida, Giuseppe Isimbaldi, Carlo Ferrarese