A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

Xiao-Fei Kong, Aziz Bousfiha, Adbelfettah Rouissi, Yuval Itan, Avinash Abhyankar, Vanessa Bryant, Satoshi Okada, Fatima Ailal, Jacinta Bustamante, Jean-Laurent Casanova, Jennifer Hirst, Stephanie Boisson-Dupuis The Rockefeller University PLoS One 8 (3) (2013)