Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability - Manuel Schiff, Tobias Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K. Trefz, Aurora Martinez, Jean-François Benoist, Gali Heimer, May Christine V. Malicdan, Bruria Ben-Zeev - Dissemin

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Elsevier, European Journal of Paediatric Neurology, (21), p. e175

DOI: 10.1016/j.ejpn.2017.04.992

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Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability

Journal article published in 2017 by Manuel Schiff, Tobias Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K. Trefz, Aurora Martinez, Jean-François Benoist, Gali Heimer, May Christine V. Malicdan, Bruria Ben-Zeev and other authors.

This paper was not found in any repository, but could be made available legally by the author.

This paper was not found in any repository, but could be made available legally by the author.

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