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Perrotta, S.1
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Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG→TGG condon change (Arg→Trp) at position 35 of the alpha I domain
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Morle L, Morle F, Roux AF, et al. Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG→TGG condon change (Arg→Trp) at position 35 of the alpha I domain. Blood. 1989;74: 828-832.
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Sp alpha I/78: A mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes
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Lecomte MC, Garbarz M, Grandchamp B, et al. Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes. Blood. 1989;74:1126-1133.
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Spectrin Anastasia (alpha I/78): A new spectrin variant (alpha 45 Arg→Thr) with moderate elliptocytogenic potential
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Perrotta S, Iolascon A, De Angelis F, et al. Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg→Thr) with moderate elliptocytogenic potential. Br J Haematol. 1995;89:933-936.
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Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain: Spectrin Culoz (GGT→GTT; alpha I 40 Gly→Val) and spectrin Lyon (CTT→TTT, alpha I 43 Leu→Phe)
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Morle L, Roux AF, Alloisio N, et al. Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain: Spectrin Culoz (GGT→GTT; alpha I 40 Gly→Val) and spectrin Lyon (CTT→TTT, alpha I 43 Leu→Phe). J Clin Invest. 1990;86:548-554.
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