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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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Title Missense mutations in the copper transporter gene ATP7A cause X-Linked distal hereditary motor neuropathy
Author(s) 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.
Garbern, James Y.
Journal name American journal of human genetics
Volume number 86
Issue number 3
Start page 342
End page 352
Total pages 11
Publisher Cell Press
Place of publication Cambridge, Mass.
Publication date 2010-03-12
ISSN 0002-9297
1537-6605
Language eng
Field of Research 060199 Biochemistry and Cell Biology not elsewhere classified
Socio Economic Objective 970111 Expanding Knowledge in the Medical and Health Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©2010, Elsevier
Persistent URL http://hdl.handle.net/10536/DRO/DU:30035338

Document type: Journal Article
Collections: School of Life and Environmental Sciences
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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.