Molecular genetics of GLUT1DS Italian pediatric cohort: 10 novel related-disease variants and structural analysis
Alessia Mauri, Alessandra Duse, Giacomo Palm, Roberto Previtali, Stefania Maria Bova, Sara Olivotto, Sara Benedetti, Francesca Coscia, Pierangelo Veggiotti, Cristina Cereda
The paper analyzes 27 Italian GLUT1DS patients, identifying 10 novel variants and correlating mutation types with clinical severity.
International Journal of Molecular Sciences · Nov 4, 2022Peer-reviewedGenetics