A de novo nonsense PDGFB mutation causing idiopathic basal...

European Journal of Human Genetics 2014 / 10 Vol. 22; Iss. 10

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

Nicolas, Gaël, Jacquin, Agnès, Thauvin-Robinet, Christel, Rovelet-Lecrux, Anne, Rouaud, Olivier, Pottier, Cyril, Aubriot-Lorton, Marie-Hélène, Rousseau, Stéphane, Wallon, David, Duvillard, Christian,
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Volume:
22
Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2014.9
Date:
October, 2014
File:
PDF, 513 KB
english, 2014
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