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6. 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; 82(7):2210-5. PubMed ID: 8400271 [TBL] [Abstract][Full Text] [Related]
7. 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. Roux AF; Morlé F; Guetarni D; Colonna P; Sahr K; Forget BG; Delaunay J; Godet J Blood; 1989 Jun; 73(8):2196-201. PubMed ID: 2567189 [TBL] [Abstract][Full Text] [Related]
8. Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. Qualtieri A; Pasqua A; Bisconte MG; Le Pera M; Brancati C Br J Haematol; 1997 May; 97(2):273-8. PubMed ID: 9163587 [TBL] [Abstract][Full Text] [Related]
9. Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. Basserès DS; Pranke PH; Sales TS; Costa FF; Saad ST Br J Haematol; 1997 Jun; 97(3):579-85. PubMed ID: 9207403 [TBL] [Abstract][Full Text] [Related]
10. Abnormal tryptic peptide from the spectrin alpha-chain resulting from alpha- or beta-chain mutations: two genetically distinct forms of the Sp alpha I/74 variant. Lecomte MC; Gautero H; Garbarz M; Boivin P; Dhermy D Br J Haematol; 1990 Nov; 76(3):406-13. PubMed ID: 2261350 [TBL] [Abstract][Full Text] [Related]
11. 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 Eur J Haematol; 1994 Feb; 52(2):92-8. PubMed ID: 8119389 [TBL] [Abstract][Full Text] [Related]
12. Assignment of Sp alpha I/74 hereditary elliptocytosis to the alpha- or beta-chain of spectrin through in vitro dimer reconstitution. Pothier B; Alloisio N; Maréchal J; Morlé L; Ducluzeau MT; Caldani C; Philippe N; Delaunay J Blood; 1990 May; 75(10):2061-9. PubMed ID: 2337674 [TBL] [Abstract][Full Text] [Related]
13. 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 Blood; 1992 May; 79(9):2464-70. PubMed ID: 1571558 [TBL] [Abstract][Full Text] [Related]
14. Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya. Maillet P; Inoue T; Kanzaki A; Yawata A; Kato K; Baklouti F; Delaunay J; Yawata Y Hum Mutat; 1996; 8(4):366-8. PubMed ID: 8956043 [No Abstract] [Full Text] [Related]
15. Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis. Coetzer TL; Sahr K; Prchal J; Blacklock H; Peterson L; Koler R; Doyle J; Manaster J; Palek J J Clin Invest; 1991 Sep; 88(3):743-9. PubMed ID: 1679439 [TBL] [Abstract][Full Text] [Related]
16. 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; 266(23):15154-9. PubMed ID: 1840591 [TBL] [Abstract][Full Text] [Related]
17. Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. Garbarz M; Tse WT; Gallagher PG; Picat C; Lecomte MC; Galibert F; Dhermy D; Forget BG J Clin Invest; 1991 Jul; 88(1):76-81. PubMed ID: 2056132 [TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 7819065 [TBL] [Abstract][Full Text] [Related]
19. Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential. Perrotta S; Iolascon A; De Angelis F; Pagano L; Colonna G; Cutillo S; Miraglia del Giudice E Br J Haematol; 1995 Apr; 89(4):933-6. PubMed ID: 7772539 [TBL] [Abstract][Full Text] [Related]
20. [Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity]. Eber SW Klin Padiatr; 1991; 203(4):284-95. PubMed ID: 1942935 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]