A new inclusion body β-thalassemia trait in a Spanish male is caused by deletion of 11 bp in codons 131-134 of the β-globin gene

被引:0
|
作者
González, FA
Ropero, P
Martínez, M
Golvano, E
Benavente, C
Villegas, A
机构
[1] Hosp Clin San Carlos, Serv Hematol & Hemoterapia, Madrid, Spain
[2] Hosp Gen Segovia, Segovia, Spain
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
3581
引用
收藏
页码:31B / 31B
页数:1
相关论文
共 13 条
  • [1] A deletion of 11 bp (CD 131-134) in exon 3 of the β-globin gene produces the phenotype of inclusion body β-thalassemia
    Ropero, P
    Villegas, A
    Martínez, M
    Fernández, FAG
    Benavente, C
    Mateo, M
    ANNALS OF HEMATOLOGY, 2005, 84 (09) : 584 - 587
  • [2] A deletion of 11 bp (CD 131–134) in exon 3 of the β-globin gene produces the phenotype of inclusion body β-thalassemia
    Paloma Ropero
    Ana Villegas
    Miguel Martínez
    Fernando Ataulfo González Fernández
    Celina Benavente
    Marta Mateo
    Annals of Hematology, 2005, 84 : 584 - 587
  • [3] The novo 4 BP deletion in the codons 20/21 (-TGGA) at the first exon of the β-globin gene causing a β0-thalassemia in a Spanish male
    Ropero, Paloma
    Gonzalez, Fernando Ataulfo
    Calvo Villas, Jose Manuel
    Paul, Rosa
    Villegas, Ana
    ANNALS OF HEMATOLOGY, 2008, 87 (01) : 63 - 65
  • [4] The novo 4 BP deletion in the codons 20/21 (−TGGA) at the first exon of the β-globin gene causing a β0-thalassemia in a Spanish male
    Paloma Ropero
    Fernando Ataulfo González
    Jose Manuel Calvo Villas
    Rosa Paúl
    Ana Villegas
    Annals of Hematology, 2008, 87 : 63 - 65
  • [5] DOMINANT BETA-THALASSEMIA TRAIT IN A PORTUGUESE FAMILY IS CAUSED BY A DELETION OF (G)TGGCTGGTGT(G) AND AN INSERTION OF (G)GCAG(G) IN CODONS 134, 135, 136 AND 137 OF THE BETA-GLOBIN GENE
    ONER, R
    ONER, C
    WILSON, JB
    TAMAGNINI, GP
    RIBEIRO, LML
    HUISMAN, THJ
    BRITISH JOURNAL OF HAEMATOLOGY, 1991, 79 (02) : 306 - 310
  • [6] A BETA-THALASSEMIA MUTANT CAUSED BY A 300-BP DELETION IN THE HUMAN BETA-GLOBIN GENE
    AULEHLASCHOLZ, C
    SPIEGELBERG, R
    HORST, J
    HUMAN GENETICS, 1989, 81 (03) : 298 - 299
  • [7] A SINGLE NUCLEOTIDE DELETION IN CODON 123 OF THE BETA-GLOBIN GENE CAUSES AN INCLUSION BODY BETA-THALASSEMIA TRAIT - A NOVEL ELONGATED GLOBIN CHAIN BETA-MAKABE
    FUCHAROEN, S
    KOBAYASHI, Y
    FUCHAROEN, G
    OHBA, Y
    MIYAZONO, K
    FUKUMAKI, Y
    TAKAKU, F
    BRITISH JOURNAL OF HAEMATOLOGY, 1990, 75 (03) : 393 - 399
  • [8] A new high A2-β-thalassemia due to a 468 bp deletion (-475 to -8) in the β-globin gene promoter of the intact β-globin structural gene
    Kueviakoe, I
    Gerard, N
    Krishnamoorthy, R
    Pereira, S
    Elion, J
    Ducrocq, R
    HEMOGLOBIN, 2004, 28 (01) : 69 - 72
  • [9] 8-BASE DELETION IN EXON-3 OF THE BETA-GLOBIN GENE PRODUCED A NOVEL VARIANT (BETA-KHON KAEN) WITH AN INCLUSION BODY BETA-THALASSEMIA TRAIT
    FUCHAROEN, G
    FUCHAROEN, S
    JETSRISUPARB, A
    FUKUMAKI, Y
    BLOOD, 1991, 78 (02) : 537 - 538
  • [10] alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence
    Tamary, H
    Klinger, G
    Shalmon, L
    Attias, D
    Fortina, P
    Kobayashi, M
    Surrey, S
    Zaizov, R
    HEMOGLOBIN, 1997, 21 (02) : 121 - 130