| 1 | EL2, SPTA1
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| Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.
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| Swierczek S, Agarwal AM, Naidoo K, Lorenzo FR, Whisenant J, Nussenzveig RH, Agarwal N, Coetzer TL, Prchal JT.
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| Haematologica 98(12):1972-9. doi: 10.3324/haematol.2013.086629. Epub 2013 Sep 27.
2013
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| 2 | 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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| 3 | 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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| 4 | EL2, HPP, SPTA1
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| Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin : application to the study of hereditary elliptocytosis and pyropoikilocytosis.
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| Gallagher PG, et al.
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| Am J Hum Genet 59 : 351-359. 1996
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| 5 | SPTA1, EL2
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| Mild elliptocytosis assoiated with the alpha34 Arg-Trp mutation in spectrin genova (alpha I/74).
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| Perrotta S, et al.
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| Blood 83 : 3346-3349. 1994
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| 6 | EL2, SPTA1
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| A variant of spectrin low-expression allele alpha LELY carrying a hereditay elliptocytosis mutation in codon 28.
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| Randon J, et al.
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| Br J Haematol 88 : 534-540. 1994
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| 7 | EL2, SPTA1
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| Identification of three novel spectrin alphaI/74 mutations in hereditary elliptocytosis : further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.
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| Parquet N, et al.
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| Blood 84 : 303-308. 1994
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| 8 | EL2, HPP, SPTA1
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| Severe poikilocytosis associated with a de novo alpha-28 Arg--Cys mutation in spectrin.
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| Lorenzo F, et al.
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| Br J Haematol 83 : 152-157. 1993
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| 9 | HPP, EL2, SPTA1
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| An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha-V/41 polymorphism.
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| Dalla Venezia N, et al.
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| Hum Genet 90 : 641-644. 1993
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| 10 | SPTA1, EL2
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| A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis.
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| Alloisio N, et al.
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| Blood 81 : 2791-2798. 1993
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| 11 | EL2
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| A common type of the spectrin alpha1 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.
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| Gallagher PG, et al.
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| J Clin Invest 89 : 892-898. 1992
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| 12 | EL2
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| Elliptocytosis-associated spectrin Rouen (beta220/218) has a truncated but still phosphorylatable beta chain.
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| Lecomte MC, et al.
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| Br J Haematol 80 : 242-250. 1992
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| 13 | EL2, SPTA1
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| Elliptocytogenic alpha1/36 spectrin Sfax lacks nine amino acids in helix 3 of repeat 4. Evidence for the activation of a cryptic 5'-splice site in exon 8 of spectrin alpha-gene.
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| Baklouti F, et al.
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| Blood 79 : 2464-2470. 1992
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| 14 | EL2
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| Spectrin Jendouba : an alphaII/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.
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| Alloisio N, et al.
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| Blood 80 : 809-815. 1992
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| 15 | EL2
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| Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha-I/74-kilodalton tryptic peptide.
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| Floyd PB, et al.
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| Blood 78 : 1364-1372. 1991
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| 16 | EL2, HPP
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| Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha-I-74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha-I domain.
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| Garbarz M, et al.
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| Blood 75 : 1691-1698. 1990
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| 17 | EL2, HPP
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| Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis.
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| Coetzer T, et al.
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| Blood 75 : 2235-2244. 1990
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| 18 | EL2
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| Two elliptocytogenic alpha-1/74 variants of the spectrin alpha-I domain.
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| MorlŽ L, et al.
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| J Clin Invest 86 : 548-554. 1990
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| 19 | EL2, SPH2, SPH3
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| Assignment of Sp-alpha-1/74 hereditary elliptocytosis to the alpha- or the beta-chain of spectrin through in vitro dimer reconstitution.
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| Pothier BN, et al.
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| Blood 75 : 2061-2069. 1990
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| 20 | EL1, EL2, EL4, EPB41, SPH1, SPH2, SPH3, SPTA1, SPTB
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| Hereditary disorders of the red cell membrane skeleton.
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| Davies KA, et al.
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| Trends Genet 5 : 222-227. 1989
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| 21 | SPTA1, EL2
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| Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa : insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families.
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| Roux AF, et al.
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| Blood 73 : 2196-2201. 1989
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| 22 | EL2, SPH2
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| Spectrin Nice (beta-220/216): a shortened beta-chain variant associated with an increase of the alpha-1/74 fragment in a case of elliptocytosis.
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| Pothier BL, et al.
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| Blood 69 : 1759-1765. 1987
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| 23 | EL2
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| Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis.
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| Marchesi SL, et al.
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| J Clin Invest 80 : 191-198. 1987
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