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Journal Articles

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1 : a novel form of GLUT1 deficiency syndrome

Joanna F. Flatt, Hélène Guizouarn, Nicholas M. Burton, Franck Borgese, Richard J. Tomlinson, Robert J. Forsyth, Stephen A. Baldwin, Bari E. Levinson, Philippe Quittet, Patricia Aguilar-Martinez, Jean Delaunay, Gordon W. Stewart, Lesley J. Bruce
Journal: Blood
Blood (2011) 118 (19): 5267–5277.
https://doi.org/10.1182/blood-2010-12-326645
Published: 2011
Includes: Supplemental data