| 1 | EL4, SLC4A1
|
| Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.
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| Stewart AK, Kedar PS, Shmukler BE, Vandorpe DH, Hsu A, Glader B, Rivera A, Brugnara C, Alper SL.
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| Am J Physiol Cell Physiol 300(5):C1034-46. Epub 2011 Jan 5.
2011
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| 2 | EL4, SLC4A1
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| Molecular population genetics of SLC4A1 and Southeast Asian Ovalocytosis.
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| Wilder JA, Stone JA, Preston EG, Finn LE, Ratcliffe HL, Sudoyo H.
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| J Hum Genet 54(3):182-7. Epub 2009 Feb 20.
2009
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| 3 | EL1, EL2, EL3, EL4, SPH1, SPH2, SPH3, SPH4, SPH5
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| Disorders of red cell membrane.
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| An X, Mohandas N.
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| Br J Haematol 141(3):367-75. Epub 2008 Mar 12. Review. 2008
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| 4 | EL1, EL2, EL3, EL4, EPB41, SPTA1, SPTB
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| Hereditary elliptocytosis: spectrin and protein 4.1R.
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| Gallagher PG.
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| Semin Hematol 41(2):142-64. Review. 2004
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| 5 | EL4, GYPC
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| Molecular analysis of glycophorin C deficiency in human erythrocytes.
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| Winardi R, et al.
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| Blood 81 : 2799-2803. 1993
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| 6 | EL4, SLCA41
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| Molecular basis for membrane rigidity of hereditary ovalocytosis. A novel mechanism involving the cytoplasmic domain of band 3.
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| Mohandas N, et al.
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| J Clin Invest 89 : 686-692. 1992
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| 7 | EL4, SLCA41
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| Melanesian hereditary ovalocytes have a deletion in red cell band 3.
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| Tanner MJA, et al.
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| Blood 78 : 2785-2786. 1991
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| 8 | EL4, SLCA41
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| Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
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| Jarolim P, et al.
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| Proc Natl Acad Sci U S A 88 : 11022-11026. 1991
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| 9 | EL4, SLCA41
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| Molecular defect of the band 3 protein in southeast asian ovalocytosis.
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| Liu SC, et al.
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| N Engl J Med 323 : 1530-1538. 1990
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| 10 | EL1, EL2, EL4, EPB41, SPH1, SPH2, SPH3, SPTA1, SPTB
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| Hereditary disorders of the red cell membrane skeleton.
|
| Davies KA, et al.
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| Trends Genet 5 : 222-227. 1989
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