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Article

Mutations in the murine erythroid alpha-spectrin gene alter spectrin mRNA and protein levels and spectrin incorporation into the red blood cell membrane skeleton.

Blood - 1 Jan 2003

Wandersee Nancy J, Birkenmeier Connie S, Bodine David M, Mohandas Narla, Barker Jane E

Abstract excerpt

Tetramers of alpha- and beta-spectrin heterodimers, linked by intermediary proteins to transmembrane proteins, stabilize the red blood cell cytoskeleton. Deficiencies of either alpha- or beta-spectrin can result in severe hereditary spherocytosis (HS) or hereditary elliptocytosis (HE) in mice and humans. Four mouse mutations, sph, sph(Dem), sph(2BC), and sph(J), affect the erythroid alpha-spectrin gene, Spna1, on...

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PMID: 12393645
DOI: 10.1182/blood-2002-01-0113

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