Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Titel:
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Auteur:
Anikster, Yair Haack, Tobias B. Vilboux, Thierry Pode-Shakked, Ben Thöny, Beat Shen, Nan Guarani, Virginia Meissner, Thomas Mayatepek, Ertan Trefz, Friedrich K. Marek-Yagel, Dina Martinez, Aurora Huttlin, Edward L. Paulo, Joao A. Berutti, Riccardo Benoist, Jean-François Imbard, Apolline Dorboz, Imen Heimer, Gali Landau, Yuval Ziv-Strasser, Limor Malicdan, May Christine V. Gemperle-Britschgi, Corinne Cremer, Kirsten Engels, Hartmut Meili, David Keller, Irene Bruggmann, Rémy Strom, Tim M. Meitinger, Thomas Mullikin, James C. Schwartz, Gerard Ben-Zeev, Bruria Gahl, William A. Harper, J. Wade Blau, Nenad Hoffmann, Georg F. Prokisch, Holger Opladen, Thomas Schiff, Manuel