| 1 | 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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| 2 | SLC4A1, SPH4
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| Homozygous missense mutation (band 3 Fukuoka : G130R) : a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency.
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| Inoue T, et al.
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| Br J Haematol 102 : 932-939. 1998
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| 3 | SLC4A1, SPH4
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| Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.
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| Dhermy D, Galand C, Bournier O, Boulanger L, Cynober T, Schismanoff PO, Bursaux E, Tchernia G, Boivin P, Garbarz M.
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| Br J Haematol 98(1):32-40. 1997
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| 4 | SLC4A1, SPH4
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| A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis.
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| Bianchi P, Zanella A, Alloisio N, Barosi G, Bredi E, Pelissero G, Zappa M, Vercellati C, Baronciani L, Delaunay J, Sirchia G.
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| Br J Haematol 98(2):283-8. 1997
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| 5 | SLC4A1, SPH4
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| Band 3 Campinas: a novel splicing mutation in the band 3 gene (AE1) associated with hereditary spherocytosis, hyperactivity of Na+/Li+ countertransport and an abnormal renal bicarbonate handling.
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| Lima PR, Gontijo JA, Lopes de Faria JB, Costa FF, Saad ST.
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| Blood 90(7):2810-8. 1997
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| 6 | SLC4A1, SPH4
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| Hereditary spherocytosis with band 3 deficiency. Association with a nonsense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas).
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| Alloisio N, et al.
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| Blood 88 : 1062-1069. 1996
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| 7 | SLC4A1, SPH4
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| Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
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| Jarolim P, et al.
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| Blood 88 : 4366-4374. 1996
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| 8 | SLC4A1, SPH4
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| Band 3 chur : a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.
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| Maillet P, et al.
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| Br J Haematol 91 : 804-810. 1995
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| 9 | SLC4A1, SPH4
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| Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
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| Jarolim P, et al.
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| Blood 85 : 634-640. 1995
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| 10 | SLC4A1, SPH4
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| Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (Band 3prague).
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| Jarolim P, et al.
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| J Clin Invest 93 : 121-130. 1994
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| 11 | SLC4A1, SPH4
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| The structure and organization of the human erythroid anion exchanger (AE1) gene.
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| Sahr KE, et al.
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| Genomics 24 : 491-501. 1994
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| 12 | SLC4A1, SPH4
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| Band 3 tuscaloosa : Pro327-Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2.
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| Jarolim P, et al.
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| Blood 80 : 523-529. 1992
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| 13 | SPH4
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| A genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis.
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| Ideguchi H, et al.
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| Br J Haematol 74 : 347-353. 1990
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