I45T cytosolic phosphoenolpyruvate carboxykinase in complex with beta-sulfopyruvate and GTP

David R. Adams (Contributor)
Hongjie Yuan (Contributor)
Todd Holyoak (Contributor)
Katrina H. Arajs (Contributor)
Parvin Hakimi (Contributor)
Thomas C. Markello (Contributor)
Lynne A. Wolfe (Contributor)
Thierry Vilboux (Contributor)
Barbara K Burton (Contributor)
Karin Fuentes Fajardo (Contributor)
George Grahame (Contributor)
Conisha Holloman (Contributor)
Murat Sincan (Contributor)
A. Smith (Contributor)
Gordon A. Wells (Contributor)
Yan Huang (Contributor)
Hugo Vega (Contributor)
James P. Snyder (Contributor)
Gretchen A. Golas (Contributor)
Cynthia Tifft (Contributor)
Cornelius F. Boerkoel (Contributor)
R. W. Hanson (Contributor)
Stephen F. Traynelis (Contributor)
D. Kerr (Contributor)
William A. Gahl (Contributor)

Pediatrics

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2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
Adams, D. R., Yuan, H., Holyoak, T., Arajs, K. H., Hakimi, P., Markello, T. C., Wolfe, L. A., Vilboux, T., Burton, B. K., Fajardo, K. F., Grahame, G., Holloman, C., Sincan, M., Smith, A. C. M., Wells, G. A., Huang, Y., Vega, H., Snyder, J. P., Golas, G. A. & Tifft, C. J. & 5 others, Boerkoel, C. F., Hanson, R. W., Traynelis, S. F., Kerr, D. S. & Gahl, W. A., Nov 1 2014, In: Molecular Genetics and Metabolism. 113, 3, p. 161-170 10 p.
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Open Access
50 Scopus citations