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Mutations in the substrate binding glycine-rich loop of the mitochondria processing peptidase-alpha protein (PMPCA) cause a severe mitochondrial disease

  • Mugdha Joshi
  • , Irina Anselm
  • , Jiahai Shi
  • , Tejus A. Bale
  • , Meghan Towne
  • , Klaus Schmitz-Abe
  • , Laura Crowley
  • , Felix C. Giani
  • , Shideh Kazerounian
  • , Kyriacos Markianos
  • , Hart G. Lidov
  • , Rebecca Folkerth
  • , Vijay G. Sankaran
  • , Pankaj B. Agrawal*
  • *Corresponding author for this work

Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

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Biochemistry, Genetics and Molecular Biology