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Vögtle, F.-Nora; Brändl, Björn; Larson, Austin; Pendziwiat, Manuela; Friederich, Marisa W.; White, Susan M.; Basinger, Alice; Kücükköse, Cansu; Muhle, Hiltrud; Jähn, Johanna A.; Keminer, Oliver; Helbig, Katherine L.; Delto, Carolyn F.; Myketin, Lisa; Mossmann, Dirk; Burger, Nils; Miyake, Noriko; Burnett, Audrey; van Baalen, Andreas; Lovell, Mark A.; Matsumoto, Naomichi; Walsh, Maie; Yu, Hung-Chun; Shinde, Deepali N.; [...]

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

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  • Media type: E-Article
  • Title: Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
  • Contributor: Vögtle, F.-Nora; Brändl, Björn; Larson, Austin; Pendziwiat, Manuela; Friederich, Marisa W.; White, Susan M.; Basinger, Alice; Kücükköse, Cansu; Muhle, Hiltrud; Jähn, Johanna A.; Keminer, Oliver; Helbig, Katherine L.; Delto, Carolyn F.; Myketin, Lisa; Mossmann, Dirk; Burger, Nils; Miyake, Noriko; Burnett, Audrey; van Baalen, Andreas; Lovell, Mark A.; Matsumoto, Naomichi; Walsh, Maie; Yu, Hung-Chun; Shinde, Deepali N.; [...]
  • imprint: Elsevier BV, 2018
  • Published in: The American Journal of Human Genetics
  • Language: English
  • DOI: 10.1016/j.ajhg.2018.02.014
  • ISSN: 0002-9297
  • Origination:
  • Footnote:
  • Access State: Open Access