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Journal Articles

Genetic Linkage of the Dehydrated Hereditary Stomatocytosis Locus to Chromosome 16 in Two Kindreds and Refinement of the Candidate Gene Region to 16q24.2 - 16qter,

Brett L. Houston, BSc, Teresa Zelinski, Ph.D, Donald S Houston, MD, Ph.D, Sara J. Israels, MD, Gail Coghlan, RT BSc, Bernie N. Chodirker, MD, Patrick G. Gallagher, MD, Ryan Zarychanski, MD, MSc
Journal: Blood
Blood (2011) 118 (21): 3170.
https://doi.org/10.1182/blood.V118.21.3170.3170
Published: 2011
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

Hereditary Stomatocytosis Associated with a Loss of Function Mutation In Rh-Associated Glycoprotein (RhAG)

Connie M Westhoff, PhD, Seth Alper, MD, PhD
Journal: Blood
Blood (2010) 116 (21): 2040.
https://doi.org/10.1182/blood.V116.21.2040.2040
Published: 2010
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

Murine Spherocytosis: Evidence for a Functional Interaction between Protein 4.1 and Na/H Exchange and for a “Protective” Role of the Gardos Channel Against Hemolysis.

Lucia De Franceschi, MD, Alicia Rivera, PhD, Isabel Bize, PhD, Mark Fleming, MD, PHD, Luanne L. Peters, PhD, Philippe Gascard, PhD, Narla Mohandas, PhD, Carlo Brugnara, MD
Journal: Blood
Blood (2004) 104 (11): 578.
https://doi.org/10.1182/blood.V104.11.578.578
Published: 2004
Journal Articles

Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24

Sabine Grootenboer, Pierre-Olivier Schischmanoff, Ingrid Laurendeau, Thérèsa Cynober, Gil Tchernia, Jean-Paul Dommergues, Didier Dhermy, Mireille Bost, Bruno Varet, Michael Snyder, Samir K. Ballas, Béatrice Ducot, Marie-Claude Babron, Gordon W. Stewart, Paolo Gasparini, Achille Iolascon, Jean Delaunay
Journal: Blood
Blood (2000) 96 (7): 2599–2605.
https://doi.org/10.1182/blood.V96.7.2599
Published: 2000
Journal Articles

Stomatocytosis Is Absent in “Stomatin”-Deficient Murine Red Blood Cells

Yiwen Zhu, Chris Paszty, Tikva Turetsky, Susan Tsai, Frans A. Kuypers, Gloria Lee, Philip Cooper, Patrick G. Gallagher, Mary E. Stevens, Edward Rubin, Narla Mohandas, William C. Mentzer
Journal: Blood
Blood (1999) 93 (7): 2404–2410.
https://doi.org/10.1182/blood.V93.7.2404
Published: 1999