Mechanisms of elliptocytosis: Significant spectrin substitutions

Blood

Volumn 111, Issue 12, 2008, Pages 5417-

  Baines, Anthony J ^a  

^a UNIVERSITY OF KENT   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA1 SPECTRIN; BETA1 SPECTRIN; FODRIN; SPECTRIN; UNCLASSIFIED DRUG;

BLOOD SMEAR; ELLIPTOCYTOSIS; GENE; GENE MUTATION; HEMOLYTIC ANEMIA; HEREDITARY ELLIPTOCYTOSIS; HEREDITARY PYROPOIKILOCYTOSIS; HUMAN; INCIDENCE; MICROCALORIMETRY; NOTE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN STRUCTURE; SHEAR STRESS; SPTA1 GENE; UNITED STATES;

EID: 58549099441     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-02-137828     Document Type: Note

References (3)

1. Gahaglier PG. Hereditary elliptocytosis: Spectrin and protein 4.lR. Scmin Hcmalol. 2004;41:142-164.
2. An X, Lecornte MC, Chasis j A, Mohandas N Gratzer W. Shear response, of the spectrin diuier terraoier eqitilibrium in the red blood cell membrane. J Biol Chem. 2002, 277:31796-31800.
3. Johnson CP, Gaetani M, Ortiz V, et al. Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding. Blood, 2007;109:3538 3543.