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Items: 1 to 20 of 106

1.

Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis.

Han E, Kim A, Park J, Kim M, Kim Y, Han K, Kim YJ.

Ann Lab Med. 2013 Sep;33(5):386-9. doi: 10.3343/alm.2013.33.5.386. Epub 2013 Aug 8. No abstract available.

2.

Alpha128 Arg-->Ser (CGT-->AGT) spectrin mutation associated with severe neonatal elliptopoikilocytosis in Spain.

Corrons JL, Pujades A, Alvarez R, Estella J, Dhermy D.

Haematologica. 2001 May;86(5):537-8. No abstract available.

3.

Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.

Swierczek S, Agarwal AM, Naidoo K, Lorenzo FR, Whisenant J, Nussenzveig RH, Agarwal N, Coetzer TL, Prchal JT.

Haematologica. 2013 Dec;98(12):1972-9. doi: 10.3324/haematol.2013.086629. Epub 2013 Sep 27.

4.

Hereditary elliptocytosis: spectrin and protein 4.1R.

Gallagher PG.

Semin Hematol. 2004 Apr;41(2):142-64. Review.

PMID:
15071791
5.

Spectrin Tunis (alpha I/78): a new alpha I variant that causes asymptomatic hereditary elliptocytosis in the heterozygous state.

Morlé L, Alloisio N, Ducluzeau MT, Pothier B, Blibech R, Kastally R, Delaunay J.

Blood. 1988 Feb;71(2):508-11.

6.

Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis.

Gallagher PG, Kotula L, Wang Y, Marchesi SL, Curtis PJ, Speicher DW, Forget BG.

Am J Hum Genet. 1996 Aug;59(2):351-9.

7.

An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.

Dalla Venezia N, Wilmotte R, Morlé L, Forissier A, Parquet N, Garbarz M, Rousset T, Dhermy D, Alloisio N, Delaunay J.

Hum Genet. 1993 Feb;90(6):641-4.

PMID:
8444470
8.
10.

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.

Garbarz M, Lecomte MC, Féo C, Devaux I, Picat C, Lefebvre C, Galibert F, Gautero H, Bournier O, Galand C, et al.

Blood. 1990 Apr 15;75(8):1691-8.

12.

Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain.

Morlé L, Morlé F, Roux AF, Godet J, Forget BG, Denoroy L, Garbarz M, Dhermy D, Kastally R, Delaunay J.

Blood. 1989 Aug 1;74(2):828-32.

13.
14.

Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis.

Tolpinrud W, Maksimova YD, Forget BG, Gallagher PG.

Haematologica. 2008 Nov;93(11):1752-4. doi: 10.3324/haematol.13639. Epub 2008 Sep 24. No abstract available.

15.

Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).

Dalla Venezia N, Alloisio N, Forissier A, Denoroy L, Aymerich M, Vives-Corrons JL, Besalduch J, Besson I, Delaunay J.

Blood. 1993 Sep 1;82(5):1661-5.

16.

Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: ultrastructural aspect of the red cell skeleton.

Maréchal J, Wada H, Koffa T, Kanzaki A, Wilmotte R, Ikoma K, Yawata A, Inoue T, Takanashi K, Miura A, et al.

Eur J Haematol. 1994 Feb;52(2):92-8.

PMID:
8119389
17.

Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes.

Lecomte MC, Garbarz M, Grandchamp B, Féo C, Gautero H, Devaux I, Bournier O, Galand C, d'Auriol L, Galibert F, et al.

Blood. 1989 Aug 15;74(3):1126-33.

18.

[Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant].

Garbarz M, Devaux I, Grandchamp B, Picat C, Dhermy D, Lecomte MC, Boivin P, Sahr KE, Forget B.

C R Acad Sci III. 1989;308(2):43-8. French.

PMID:
2493313
19.

Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene.

Garbarz M, Boulanger L, Pedroni S, Lecomte MC, Gautero H, Galand C, Boivin P, Feldman L, Dhermy D.

Blood. 1992 Aug 15;80(4):1066-73.

20.

A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.

Randon J, Boulanger L, Marechal J, Garbarz M, Vallier A, Ribeiro L, Tamagnini G, Dhermy D, Delaunay J.

Br J Haematol. 1994 Nov;88(3):534-40.

PMID:
7819065

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