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TypeTitleAuthor(s)YearViews
A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family
Journal:
Muscle and Nerve
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/32891
Lin, P; Mao, F; Liu, Q; Yang, W; Shao, C; Yan, C; Gong, Y2010467
 
A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Lin, P; Li, J; Liu, Q; Mao, F; Li, J; Qiu, R; Hu, H; Song, Y; Yang, Y; Gao, G; Yan, C; Yang, W; Shao, C; Gong, Y2008666
 
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