| 1 | HPP, SPTA1
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| A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred.
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| Costa DB, Lozovatsky L, Gallagher PG, Forget BG.
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| Blood 106(13):4367-9. Epub 2005 Sep 8.
2005
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| 2 | HPP, SPTA1
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| Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia.
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| Fournier CM, Nicolas G, Gallagher PG, Dhermy D, Grandchamp B, Lecomte MC.
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| Blood 89(12):4584-90. 1997
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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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
|