Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Year: 2017
Type: article
Study design: Case Report
Authors: Anikster, Yair, Haack, Tobias B, Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat; https://orcid.org/0000-0002-8420-4769, 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
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W7212010684