134 related articles for article (PubMed ID: 27709257)
1. A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis.
Bogusławska DM; Heger E; Machnicka B; Skulski M; Kuliczkowski K; Sikorski AF
Ann Hematol; 2017 Jan; 96(1):163-165. PubMed ID: 27709257
[No Abstract] [Full Text] [Related]
2. beta-Spectrin São PauloII, a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA.
Bassères DS; Tavares AC; Costa FF; Saad ST
Braz J Med Biol Res; 2002 Aug; 35(8):921-5. PubMed ID: 12185384
[TBL] [Abstract][Full Text] [Related]
3. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.
Maciag M; Płochocka D; Adamowicz-Salach A; Burzyńska B
Br J Haematol; 2009 Aug; 146(3):326-32. PubMed ID: 19538529
[TBL] [Abstract][Full Text] [Related]
4. Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.
Becker PS; Tse WT; Lux SE; Forget BG
J Clin Invest; 1993 Aug; 92(2):612-6. PubMed ID: 8102379
[TBL] [Abstract][Full Text] [Related]
5. A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.
Zhao RQ; Jiang F; Li J; Zhou JY; Tang XW; Li FT; Chen LQ; Li DZ
Int J Lab Hematol; 2021 Dec; 43(6):e294-e297. PubMed ID: 33974364
[No Abstract] [Full Text] [Related]
6. beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism.
Bassères DS; Duarte AS; Hassoun H; Costa FF; Saad ST
Br J Haematol; 2001 Nov; 115(2):347-53. PubMed ID: 11703334
[TBL] [Abstract][Full Text] [Related]
7. Murine recessive hereditary spherocytosis, sph/sph, is caused by a mutation in the erythroid alpha-spectrin gene.
Wandersee NJ; Birkenmeier CS; Gifford EJ; Mohandas N; Barker JE
Hematol J; 2000; 1(4):235-42. PubMed ID: 11920196
[TBL] [Abstract][Full Text] [Related]
8. Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.
Wichterle H; Hanspal M; Palek J; Jarolim P
J Clin Invest; 1996 Nov; 98(10):2300-7. PubMed ID: 8941647
[TBL] [Abstract][Full Text] [Related]
9. Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China.
Meng LL; Yuan SM; Tu CF; Lin G; Lu GX; Tan YQ
Ann Hematol; 2019 Jan; 98(1):223-226. PubMed ID: 29961904
[No Abstract] [Full Text] [Related]
10. Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency.
Hassoun H; Vassiliadis JN; Murray J; Njolstad PR; Rogus JJ; Ballas SK; Schaffer F; Jarolim P; Brabec V; Palek J
Blood; 1997 Jul; 90(1):398-406. PubMed ID: 9207476
[TBL] [Abstract][Full Text] [Related]
11. Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population.
Liu XD; Yang K; Xiao J; Huang H; Zhang XD; Huang JY
Ann Hematol; 2022 Oct; 101(10):2355-2357. PubMed ID: 35726106
[No Abstract] [Full Text] [Related]
12. A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
Nieminen TT; Liyanarachchi S; Comiskey DF; Wang Y; Li W; Hendrickson IV; Brock P; de la Chapelle A; He H
Mol Genet Genomic Med; 2021 May; 9(5):e1641. PubMed ID: 33943044
[TBL] [Abstract][Full Text] [Related]
13. Beta-spectrin Promiss-ao: a translation initiation codon mutation of the beta-spectrin gene (ATG --> GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family.
Bassères DS; Vicentim DL; Costa FF; Saad ST; Hassoun H
Blood; 1998 Jan; 91(1):368-9. PubMed ID: 9414314
[No Abstract] [Full Text] [Related]
14. Molecular genetics of the human beta-spectrin gene.
Forget BG; Chang JG; Coupal E; Stanislovitis P; Costa FF; Winkelmann JC; Agre PC; Marchesi VT; Watkins PC
Trans Assoc Am Physicians; 1988; 101():149-54. PubMed ID: 2908371
[No Abstract] [Full Text] [Related]
15. Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
Nussenzveig RH; Christensen RD; Prchal JT; Yaish HM; Agarwal AM
Neonatology; 2014; 106(4):355-7. PubMed ID: 25277063
[TBL] [Abstract][Full Text] [Related]
16. Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene.
Dhermy D; Galand C; Bournier O; Cynober T; Méchinaud F; Tchemia G; Garbarz M
Blood Cells Mol Dis; 1998 Jun; 24(2):251-61. PubMed ID: 9714702
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.
Bogusławska DM; Skulski M; Machnicka B; Potoczek S; Kraszewski S; Kuliczkowski K; Sikorski AF
Int J Mol Sci; 2021 Oct; 22(20):. PubMed ID: 34681667
[TBL] [Abstract][Full Text] [Related]
19. Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis.
Fan LL; Liu JS; Huang H; Du R; Xiang R
J Gene Med; 2019 Feb; 21(2-3):e3073. PubMed ID: 30690801
[TBL] [Abstract][Full Text] [Related]
20. A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao).
Garbarz M; Galand C; Bibas D; Bournier O; Devaux I; Harousseau JL; Grandchamp B; Dhermy D
Br J Haematol; 1998 Jan; 100(1):90-8. PubMed ID: 9450796
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]