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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

Blood (2011) 118 (19): 5267–5277.

https://doi.org/10.1182/blood-2010-12-326645

Published: 2011

Includes: Supplemental data

Journal Articles

Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes

Belinda K. Singleton, Winnie Lau, Victoria S. S. Fairweather, Nicholas M. Burton, Marieangela C. Wilson, Steve F. Parsons, Ben M. Richardson, Kongtana Trakarnsanga, R. Leo Brady, David J. Anstee, Jan Frayne

Blood (2011) 118 (11): 3137–3145.

https://doi.org/10.1182/blood-2011-04-349985

Published: 2011

Includes: Supplemental data

Journal Articles

A Novel EKLF Mutation in a Patient with Dyserythropoietic Anemia: The First Association of EKLF with Disease in Man.

Belinda K Singleton, Victoria SS Fairweather, Winnie Lau, Stephen F Parsons, Nicholas M Burton, Jan Frayne, R. Leo Brady, David J Anstee

Blood (2009) 114 (22): 162.

https://doi.org/10.1182/blood.V114.22.162.162

Published: 2009

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

Blood (2009) 113 (6): 1350–1357.

https://doi.org/10.1182/blood-2008-07-171140

Published: 2009

Includes: Supplemental data

Journal Articles

Mutations in EKLF / KLF1 form the molecular basis of the rare blood group In(Lu) phenotype

Belinda K. Singleton, Nicholas M. Burton, Carole Green, R. Leo Brady, David J. Anstee

Blood (2008) 112 (5): 2081–2088.

https://doi.org/10.1182/blood-2008-03-145672

Published: 2008

Includes: Supplemental data

NARROW

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

Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes

A Novel EKLF Mutation in a Patient with Dyserythropoietic Anemia: The First Association of EKLF with Disease in Man.

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

Mutations in EKLF / KLF1 form the molecular basis of the rare blood group In(Lu) phenotype

Email alerts

ASH Publications

American Society of Hematology

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

Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes

A Novel EKLF Mutation in a Patient with Dyserythropoietic Anemia: The First Association of EKLF with Disease in Man.

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

Mutations in EKLF / KLF1 form the molecular basis of the rare blood group In(Lu) phenotype

Email alerts

ASH Publications

American Society of Hematology

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