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

Autor: Vögtle, F.-Nora1 nora.voegtle@biochemie.uni-freiburg.de, Brändl, Björn2, Larson, Austin3, Pendziwiat, Manuela4, Friederich, Marisa W.3, White, Susan M.5,6, Basinger, Alice7, Kücükköse, Cansu1,8, Muhle, Hiltrud4, Jähn, Johanna A.4, Keminer, Oliver9, Helbig, Katherine L.10, Delto, Carolyn F.11, Myketin, Lisa1, Mossmann, Dirk1, Burger, Nils1, Miyake, Noriko12, Burnett, Audrey7, van Baalen, Andreas4, Lovell, Mark A.13
Zdroj: American Journal of Human Genetics. Apr2018, Vol. 102 Issue 4, p557-573. 17p.
Databáze: Academic Search Ultimate