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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

  • Yoshiko Murakami
  • , Thi Tuyet Mai Nguyen
  • , Nissan Baratang
  • , Praveen K. Raju
  • , Alexej Knaus
  • , Sian Ellard
  • , Gabriela Jones
  • , B. Lace
  • , Justine Rousseau
  • , Norbert Fonya Ajeawung
  • , Atsushi Kamei
  • , Gaku Minase
  • , Manami Akasaka
  • , Nami Araya
  • , E. Koshimizu
  • , Jenneke van den Ende
  • , Florian Erger
  • , Janine Altmüller
  • , Zita Krumina
  • , Jurgis Strautmanis
    • Inna Inashkina, J. Stavusis, A. El-Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C. Verma, Esther M. Maier, Tobias B. Haack, Anil Israni, J. Baptista, Adam Gunning, Jill A. Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais O. Hashem, Hesham M. Aldhalaan, Fowzan S. Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter M. Krawitz, Elsa Rossignol, T. Kinoshita, Philippe M. Campeau*
*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

48 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology