Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability. (June 2017)

• Record Type: Journal Article
• Authors: Schiff, Manuel; Haack, Tobias; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Martinez, Aurora; Benoist, Jean-François; Heimer, Gali; Malicdan, May Christine V.; Ben-Zeev, Bruria; Blau, Nenad; Hoffmann, Georg F.; Prokisch, Holger; Opladen, Thomas; Anikster, Yair
• Is Part Of: European journal of paediatric neurology. Volume 21(2017)Supplement 1
• Page Start: e175
• Publication Date: 2017-06
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2017.04.992
• Languages: English
• ISSNs: 1090-3798