Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
DNAJC12 双等位基因突变导致高苯丙氨酸血症、肌张力障碍和智力障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.01.002
Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K Trefz, Dina Marek-Yagel, Aurora Martinez, Edward L Huttlin, Joao A Paulo, Riccardo Berutti, Jean-François Benoist, Apolline Imbard, Imen Dorboz, Gal