A DELETION WITHIN THE BETA-SPECTRIN GENE ASSOCIATED WITH A TRUNCATED PROTEIN AND RESULTING IN HEREDITARY SPHEROCYTOSIS BETA-SPECTRIN DURHAM

被引:0
|
作者
HASSOUN, H
VASSILIADIS, JN
MURRAY, J
YI, SJ
HANSPAL, M
WARE, RE
WINTER, SS
CHIOU, SS
PALEK, J
机构
[1] TUFTS UNIV,SCH MED,ST ELIZABETHS MED CTR,DEPT BIOMED RES,BOSTON,MA 02111
[2] DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:A4 / A4
页数:1
相关论文
共 50 条
  • [1] MOLECULAR DEFECT OF TRUNCATED BETA-SPECTRIN ASSOCIATED WITH HEREDITARY ELLIPTOCYTOSIS - BETA-SPECTRIN GOTTINGEN
    YOON, SH
    YU, HL
    EBER, S
    PRCHAL, JT
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1991, 266 (13) : 8490 - 8494
  • [2] BETA-SPECTRIN TABOR - A NONSENSE MUTATION WITHIN THE BETA-SPECTRIN GENE ASSOCIATED WITH DOMINANTLY INHERITED SPHEROCYTOSIS AND SPECTRIN DEFICIENCY
    HASSOUN, H
    VASSILIADIS, JN
    MURRAY, J
    JAROLIM, P
    BRABEC, V
    PALEK, J
    BLOOD, 1994, 84 (10) : A6 - A6
  • [3] 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
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1991, 266 (23) : 15154 - 15159
  • [4] Novel beta-spectrin variants associated with hereditary spherocytosis in Brazil.
    Basseres, DS
    Tavares, AC
    Bordin, TS
    Vicentim, DL
    Melo, MB
    Costa, FF
    Hassoun, H
    Saad, STO
    BLOOD, 1997, 90 (10) : 2695 - 2695
  • [5] 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
    JOURNAL OF CLINICAL INVESTIGATION, 1993, 92 (02): : 612 - 616
  • [6] Beta-Spectrin Deletion Responsible for Hereditary Spherocytosis: When New Technologies Are Not the Key to Success
    Panizo Morgado, Elena
    Teresa Darnaude, Maria
    Torres Mohedas, Julian
    Benedit, Maria
    Cervera Bravo, Aurea
    JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2020, 42 (07) : E686 - E688
  • [7] Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA
    Maciag, Monika
    Plochocka, Danuta
    Adamowicz-Salach, Anna
    Burzynska, Beata
    BRITISH JOURNAL OF HAEMATOLOGY, 2009, 146 (03) : 326 - 332
  • [8] BETA-SPECTRIN(PRAGUE) - A TRUNCATED BETA-SPECTRIN PRODUCING SPECTRIN DEFICIENCY, DEFECTIVE SPECTRIN HETERODIMER SELF-ASSOCIATION AND A PHENOTYPE OF SPHEROCYTIC ELLIPTOCYTOSIS
    JAROLIM, P
    WICHTERLE, H
    HANSPAL, M
    MURRAY, J
    RUBIN, HL
    PALEK, J
    BRITISH JOURNAL OF HAEMATOLOGY, 1995, 91 (02) : 502 - 510
  • [9] Loss of expression of one beta-spectrin allele in not dominant hereditary spherocytosis with isolated spectrin deficiency
    delGiudice, EM
    Lombardi, C
    Nobili, B
    Francese, M
    Amendola, G
    DeVivo, M
    Cutillo, S
    Perrotta, S
    BLOOD, 1996, 88 (10) : 6 - 6
  • [10] BETA-SPECTRIN(PRAGUE) - A TRUNCATED BETA-SPECTRIN PRODUCING SPECTRIN DEFICIENCY, DEFECTIVE SPECTRIN HETERODIMER SELF-ASSOCIATION AND A PHENOTYPE OF SPHEROCYTIC ELLIPTOCYTOSIS
    JAROLIM, P
    WICHTERLE, H
    HANSPAL, M
    MURRAY, J
    RUBIN, HL
    PALEK, J
    BLOOD, 1994, 84 (10) : A112 - A112