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Franck Borgese
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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
Journal Articles

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein

Lesley J. Bruce, Hélène Guizouarn, Nicholas M. Burton, Nicole Gabillat, Joyce Poole, Joanna F. Flatt, R. Leo Brady, Franck Borgese, Jean Delaunay, Gordon W. Stewart
Journal: Blood
Blood (2009) 113 (6): 1350–1357.
https://doi.org/10.1182/blood-2008-07-171140
Published: 2009
Includes: Supplemental data
Journal Articles

Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance

Hélène Guizouarn, Sonia Martial, Nicole Gabillat, Franck Borgese
Journal: Blood
Blood (2007) 110 (6): 2158–2165.
https://doi.org/10.1182/blood-2006-12-063420
Published: 2007
Includes: Supplemental data