Missense mutations in the copper transporter gene ATP7A cause X-Linked distal hereditary motor neuropathy
Kennerson, Marina L., Nicholson, Garth A., Kaler, Stephen G., Kowalski, Bartosz, Mercer, Julian F. B., Tang, Jingrong, Llanos, Roxana M., Chu, Shannon, Takata, Reinaldo I., Speck-Martins, Carlos E., Baets, Jonathan, Almeida-Souza, Leonardo, Fischer, Dirk, Timmerman, Vincent, Taylor, Philip E., Scherer, Steven S., Ferguson, Toby A., Bird, Thomas D., De Jonghe, Peter, Feely, Shawna M. E., Shy, Michael E. and Garbern, James Y. 2010, Missense mutations in the copper transporter gene ATP7A cause X-Linked distal hereditary motor neuropathy, American journal of human genetics, vol. 86, no. 3, pp. 342-352.
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