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Publication : Stomatocytosis is absent in "stomatin"-deficient murine red blood cells.

First Author  Zhu Y Year  1999
Journal  Blood Volume  93
Issue  7 Pages  2404-10
PubMed ID  10090952 Mgi Jnum  J:54046
Mgi Id  MGI:1334043 Doi  10.1182/blood.v93.7.2404.407k13_2404_2410
Citation  Zhu Y, et al. (1999) Stomatocytosis is absent in stomatin-deficient murine red blood cells. Blood 93(7):2404-10
abstractText  To examine the relationship between erythrocyte membrane protein 7. 2b deficiency and the hemolytic anemia of human hereditary stomatocytosis, we created 7.2b knock-out mice by standard gene targeting approaches. Immunoblots showed that homozygous knock-out mice completely lacked erythrocyte protein 7.2b. Despite the absence of protein 7.2b, there was no hemolytic anemia and mouse red blood cells (RBCs) were normal in morphology, cell indices, hydration status, monovalent cation content, and ability to translocate lipids. The absence of the phenotype of hereditary stomatocytosis implies that protein 7.2b deficiency plays no direct role in the etiology of this disorder and casts doubt on the previously proposed role of this protein as a mediator of cation transport in RBC.
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