Missense mutations in the copper transporter gene ATP7A cause X-Linked distal hereditary motor neuropathy

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.

Attached Files (Some files may be inaccessible until you login with your Deakin Research Online credentials)
Name			Description	MIMEType		Size	Downloads
mercer-missensemutations-2010.pdf			Published version		application/pdf	1.36MB	4

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
Publisher	Cell Press
Place of publication	Cambridge, Mass.
Publication date	2010-03-12
ISSN	0002-9297
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 Open Access Collection

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.

Versions
Version		Filter Type

Citation counts:	Cited 34 times in TR Web of Science Cited 33 times in Scopus
Access Statistics:	155 Abstract Views, 5 File Downloads - Detailed Statistics
Created:	Mon, 06 Jun 2011, 16:00:21 EST by Teresa Treffry

Deakin Research Online

Missense mutations in the copper transporter gene ATP7A cause X-Linked distal hereditary motor neuropathy

Study

Research

Access Deakin

On campus

Connect