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

Xiao Fei Kong, Aziz Bousfiha, Abdelfettah Rouissi, Yuval Itan, Avinash Abhyankar, Vanessa Bryant, Satoshi Okada, Fatima Ailal, Jacinta Bustamante, Jean Laurent Casanova, Jennifer Hirst, Stéphanie Boisson-Dupuis

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

Fingerprint

Dive into the research topics of 'A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease'. Together they form a unique fingerprint.

Medicine & Life Sciences