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1: Br J Haematol. 1989 Jul;72(3):452-5.Links

Hereditary stomatocytosis: consistent association with an integral membrane protein deficiency.

Eber SW, Lande WM, Iarocci TA, Mentzer WC, Höhn P, Wiley JS, Schröter W.

Kinderklinik und Poliklinik, Georg-August-Universität Göttingen, F.R.G.

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.

PMID: 2765409 [PubMed - indexed for MEDLINE]