Skip to Main Content
Cultureware

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

  • TR Number: 3593
  • Authors: 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
  • Institution: The Rockefeller University
  • Link to PDF: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0058286
  • Part Number Cited: glass-bottomed dishes (Mattek)
  • Pub Name: PLoS One
  • Volume: 8
  • Issue: 3
  • Year: 2013
  • Cell Line: Fibroblasts
  • Part No: P35G-0-14-C