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

Blood

Volumn 118, Issue 19, 2011, Pages 5267-5277

  Flatt, Joanna F ^a   Guizouarn, Hélène ^b   Burton, Nicholas M ^a,c   Borgese, Franck ^b   Tomlinson, Richard J ^d   Forsyth, Robert J ^e   Baldwin, Stephen A ^f   Levinson, Bari E ^g   Quittet, Philippe ^h   Aguilar Martinez, Patricia ^h   Delaunay, Jean ⁱ   Stewart, Gordon W ^j   Bruce, Lesley J ^a  

^a NHS BLOOD AND TRANSPLANT   (United Kingdom)

^b CNRS   (France)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

^d ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f UNIVERSITY OF LEEDS   (United Kingdom)

^g San Rafael Medical Center   (United States)

^h HÔPITAL SAINT ELOI   (France)

ⁱ INSERM   (France)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); CARRIER PROTEIN; DEOXYGLUCOSE; GLUCOSE TRANSPORTER 1; MONOVALENT CATION; MUTANT PROTEIN; STOMATIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANION EXCHANGE; ARTICLE; CATARACT; CATION TRANSPORT; CELL MEMBRANE PERMEABILITY; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CRYOHYDROCYTOSIS; DYSKINESIA; ENDOCYTOSIS; ERYTHROCYTE MEMBRANE; ERYTHROPOIESIS; EXERCISE; GENE MUTATION; GENETIC DISORDER; GLUCOSE TRANSPORT; HEMOLYTIC ANEMIA; HEPATOSPLENOMEGALY; HEREDITARY STOMACYTOSIS; IMMUNOHISTOCHEMISTRY; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; NONHUMAN; OOCYTE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; RETICULOCYTE; SEIZURE; STOMATOCYTOSIS; SYNDROME; WESTERN BLOTTING; XENOPUS;

EID: 81155149505     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2010-12-326645     Document Type: Article

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