| 1 | SPH3, SPTA1
|
| Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.
|
| Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG.
|
| Haematologica 99(9):e168-70. doi: 10.3324/haematol.2014.110312. Epub 2014 Jun 3. No abstract available.
2014
|
| 2 | EL1, 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
|
| 3 | SPH3, SPTA1
|
| Spectrin alphaIIa variant in dominant and non-dominant spherocytosis.
|
| Boivin P, et al.
|
| Hum Genet 92 : 153-156. 1993
|
| 4 | EL2, SPH2, SPH3
|
| Assignment of Sp-alpha-1/74 hereditary elliptocytosis to the alpha- or the beta-chain of spectrin through in vitro dimer reconstitution.
|
| Pothier BN, et al.
|
| Blood 75 : 2061-2069. 1990
|
| 5 | EL1, EL2, EL4, EPB41, SPH1, SPH2, SPH3, SPTA1, SPTB
|
| Hereditary disorders of the red cell membrane skeleton.
|
| Davies KA, et al.
|
| Trends Genet 5 : 222-227. 1989
|
| 6 | SPH3
|
| Partial deficiency of erythrocyte spectrin in hereditary spherocytosis.
|
| Agre P, et al.
|
| Nature 314 : 380-383. 1985
|
| 7 | SPH3
|
| Deficient red-cell spectrin in severe, recessively inherited spherocytosis.
|
| Agre P, et al.
|
| N Engl J Med 306 : 1155-1161. 1982
|