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Items: 1 to 20 of 186

1.

Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis.

Sahr KE, Tobe T, Scarpa A, Laughinghouse K, Marchesi SL, Agre P, Linnenbach AJ, Marchesi VT, Forget BG.

J Clin Invest. 1989 Oct;84(4):1243-52.

2.
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A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain.

Gallagher PG, Tse WT, Costa F, Scarpa A, Boivin P, Delaunay J, Forget BG.

J Biol Chem. 1991 Aug 15;266(23):15154-9.

4.

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.

PMID:
2328319
6.
7.

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.

PMID:
2568862
8.

Poikilocytic hereditary elliptocytosis associated with spectrin Alexandria: an alpha I/50b Kd variant that is caused by a single amino acid deletion.

Gallagher PG, Roberts WE, Benoit L, Speicher DW, Marchesi SL, Forget BG.

Blood. 1993 Oct 1;82(7):2210-5.

PMID:
8400271
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11.

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.

PMID:
1498324
12.

A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis.

Alloisio N, Wilmotte R, Maréchal J, Texier P, Denoroy L, Féo C, Benhadji-Zouaoui Z, Delaunay J.

Blood. 1993 May 15;81(10):2791-8.

PMID:
8490186
13.
14.

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.

15.

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

Wilmotte R, Maréchal J, Morlé L, Baklouti F, Philippe N, Kastally R, Kotula L, Delaunay J, Alloisio N.

J Clin Invest. 1993 May;91(5):2091-6.

16.

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).

Morlé L, Roux AF, Alloisio N, Pothier B, Starck J, Denoroy L, Morlé F, Rudigoz RC, Forget BG, Delaunay J, et al.

J Clin Invest. 1990 Aug;86(2):548-54.

17.

An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216).

Tse WT, Gallagher PG, Pothier B, Costa FF, Scarpa A, Delaunay J, Forget BG.

Blood. 1991 Jul 15;78(2):517-23.

PMID:
2070088
18.

Elliptocytogenic alpha I/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.

Baklouti F, Maréchal J, Wilmotte R, Alloisio N, Morlé L, Ducluzeau MT, Denoroy L, Mrad A, Ben Aribia MH, Kastally R, et al.

Blood. 1992 May 1;79(9):2464-70.

PMID:
1571558
19.

[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
20.

A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216).

Kanzaki A, Rabodonirina M, Yawata Y, Wilmotte R, Wada H, Ata K, Yamada O, Akatsuka J, Iyori H, Horiguchi M, et al.

Blood. 1992 Oct 15;80(8):2115-21.

PMID:
1391962

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