Hereditary stomatocytosis: consistent association with an integral membrane protein deficiency
- 30 June 1989
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 72 (3), 452-455
- https://doi.org/10.1111/j.1365-2141.1989.tb07731.x
Abstract
We studied the RBC membrane proteins of four patients, including a mother and daughter, with hereditary stomatocytosis. One- and two-dimensional gel electrophoresis revealed that a 28 kDa integral protein, present in normal RBC membranes, was absent in all four patients. This abnormality, reported once previously (Lande et al, 1982), appears to be a characteristic feature of hereditary stomatocytosis, and may be related to the underlying permeability defect in this disorder.This publication has 14 references indexed in Scilit:
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