263 related articles for article (PubMed ID: 2056132)
1. 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]
2. 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]
3. 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]
4. 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. PubMed ID: 2794061
[TBL] [Abstract][Full Text] [Related]
5. 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; 80(4):1066-73. PubMed ID: 1498324
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping.
Hawa NS; Cockerill FJ; Vadher S; Hewison M; Rut AR; Pike JW; O'Riordan JL; Farrow SM
Clin Endocrinol (Oxf); 1996 Jul; 45(1):85-92. PubMed ID: 8796143
[TBL] [Abstract][Full Text] [Related]
8. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.
Hennig EE; Conney AH; Wei SJ
Cancer Res; 1995 Apr; 55(7):1550-8. PubMed ID: 7882364
[TBL] [Abstract][Full Text] [Related]
9. The exon-intron organization of the human erythroid beta-spectrin gene.
Amin KM; Scarpa AL; Winkelmann JC; Curtis PJ; Forget BG
Genomics; 1993 Oct; 18(1):118-25. PubMed ID: 8276395
[TBL] [Abstract][Full Text] [Related]
10. Molecular defect of truncated beta-spectrin associated with hereditary elliptocytosis. Beta-spectrin Gottingen.
Yoon SH; Yu H; Eber S; Prchal JT
J Biol Chem; 1991 May; 266(13):8490-4. PubMed ID: 2022662
[TBL] [Abstract][Full Text] [Related]
11. Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.
Tse WT; Lecomte MC; Costa FF; Garbarz M; Feo C; Boivin P; Dhermy D; Forget BG
J Clin Invest; 1990 Sep; 86(3):909-16. PubMed ID: 1975598
[TBL] [Abstract][Full Text] [Related]
12. Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
Hayashida Y; Mitsubuchi H; Indo Y; Ohta K; Endo F; Wada Y; Matsuda I
Biochim Biophys Acta; 1994 Feb; 1225(3):317-25. PubMed ID: 8312380
[TBL] [Abstract][Full Text] [Related]
13. A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.
Gallagher PG; Tse WT; Coetzer T; Lecomte MC; Garbarz M; Zarkowsky HS; Baruchel A; Ballas SK; Dhermy D; Palek J
J Clin Invest; 1992 Mar; 89(3):892-8. PubMed ID: 1541680
[TBL] [Abstract][Full Text] [Related]
14. 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; 78(2):517-23. PubMed ID: 2070088
[TBL] [Abstract][Full Text] [Related]
15. 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
J Clin Invest; 1990 Aug; 86(2):548-54. PubMed ID: 2384601
[TBL] [Abstract][Full Text] [Related]
16. Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.
Horn D; Robinson PN; Böddrich A; Buske A; Tinschert S; Nürnberg P
Electrophoresis; 1996 Oct; 17(10):1559-63. PubMed ID: 8957181
[TBL] [Abstract][Full Text] [Related]
17. [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. PubMed ID: 2493313
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 8486776
[TBL] [Abstract][Full Text] [Related]
19. Cloning of a portion of the chromosomal gene and cDNA for human beta-fodrin, the nonerythroid form of beta-spectrin.
Chang JG; Scarpa A; Eddy RL; Byers MG; Harris AS; Morrow JS; Watkins P; Shows TB; Forget BG
Genomics; 1993 Aug; 17(2):287-93. PubMed ID: 8406479
[TBL] [Abstract][Full Text] [Related]
20. Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.
Berg MA; Guevara-Aguirre J; Rosenbloom AL; Rosenfeld RG; Francke U
Hum Mutat; 1992; 1(1):24-32. PubMed ID: 1284474
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
