Citations for
1EL1, EL2, EL3, EL4, SPH1, SPH2, SPH3, SPH4, SPH5
Disorders of red cell membrane.
An X, Mohandas N.
Br J Haematol 141(3):367-75. Epub 2008 Mar 12. Review. 2008
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.
Inoue T, et al.
Br J Haematol 102 : 932-939. 1998
Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.
Dhermy D, Galand C, Bournier O, Boulanger L, Cynober T, Schismanoff PO, Bursaux E, Tchernia G, Boivin P, Garbarz M.
Br J Haematol 98(1):32-40. 1997
A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis.
Bianchi P, Zanella A, Alloisio N, Barosi G, Bredi E, Pelissero G, Zappa M, Vercellati C, Baronciani L, Delaunay J, Sirchia G.
Br J Haematol 98(2):283-8. 1997
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.
Lima PR, Gontijo JA, Lopes de Faria JB, Costa FF, Saad ST.
Blood 90(7):2810-8. 1997
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).
Alloisio N, et al.
Blood 88 : 1062-1069. 1996
Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
Jarolim P, et al.
Blood 88 : 4366-4374. 1996
Band 3 chur : a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.
Maillet P, et al.
Br J Haematol 91 : 804-810. 1995
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.
Jarolim P, et al.
Blood 85 : 634-640. 1995
10SLC4A1, SPH4
Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (Band 3prague).
Jarolim P, et al.
J Clin Invest 93 : 121-130. 1994
11SLC4A1, SPH4
The structure and organization of the human erythroid anion exchanger (AE1) gene.
Sahr KE, et al.
Genomics 24 : 491-501. 1994
12SLC4A1, SPH4
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.
Jarolim P, et al.
Blood 80 : 523-529. 1992
A genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis.
Ideguchi H, et al.
Br J Haematol 74 : 347-353. 1990