X-linked sideroblastic anemia due to mutations of erythroid 5-aminolevulinate synthase manifested in females.

被引：0
|
作者：
Bottomley, SS
Wise, PD
Wasson, EG
Lofvenberg, E
Carpenter, NC
机构：
[1] UNIV OKLAHOMA,HLTH SCI CTR,OKLAHOMA CITY,OK
[2] CHILDRENS MED CTR,HA CHAPMAN RES INST MED GENET,TULSA,OK
来源：
BLOOD | 1996年 / 88卷 / 10期
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：564 / 564
页数：1
相关论文
共 48 条
  • [21] X-LINKED SIDEROBLASTIC ANEMIA - IDENTIFICATION OF THE MUTATION IN THE ERYTHROID-SPECIFIC DELTA-AMINOLEVULINATE SYNTHASE GENE (ALAS2) IN THE ORIGINAL FAMILY DESCRIBED BY COOLEY
    COTTER, PD
    RUCKNAGEL, DL
    BISHOP, DF
    BLOOD, 1994, 84 (11) : 3915 - 3924
  • [22] G514A mutation in the erythroid-specific 5-aminoleulinate synthase gene leading to X-linked sideroblastic anemia in a family
    Xu, WL
    Zhu, P
    Yu, JR
    BLOOD, 2002, 100 (11) : 15B - 15B
  • [23] X-LINKED SIDEROBLASTIC ANEMIA (XLSA): TWO NEW MUTATIONS IDENTIFIED IN MALES
    Pereira, J.
    Pereira, A.
    Duarte, M.
    Rebelo, U.
    Melo, T.
    Bini-Antunes, M.
    Barbot, J.
    Ribeiro, M. L.
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2010, 95 : 716 - 717
  • [24] 5-AMINOLEVULINATE SYNTHASE ACTIVITY IN NORMAL HUMAN BONE-MARROW AND IN PATIENTS WITH IDIOPATHIC SIDEROBLASTIC ANEMIA BY RADIOCHEMICAL ASSAY
    BOTTOMLE.SS
    TANAKA, M
    SELF, J
    HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1973, 354 (08): : 852 - 853
  • [25] ERYTHROPOIETIC PROTOPORPHYRIA: MOLECULAR ANALYSIS REVEALS PATIENTS WITH X-LINKED CAUSATIVE MUTATIONS IN THE ERYTHROID-SPECIFIC 5′-AMINOLEVULINATE SYNTHASE 2 GENE
    Doheny, D. O.
    Nazarenko, I.
    Balwani, M.
    Liu, L.
    Desnick, R. J.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 8 - 8
  • [26] X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution
    Edgar, AJ
    Vidyatilake, HMS
    Wickramasinghe, SN
    EUROPEAN JOURNAL OF HAEMATOLOGY, 1998, 61 (01) : 55 - 58
  • [27] Iron overload due to X-linked sideroblastic anemia in an African American man
    Collins, TS
    Arcasoy, MO
    AMERICAN JOURNAL OF MEDICINE, 2004, 116 (07): : 501 - 502
  • [28] Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene
    Barton, JC
    Lee, PL
    Bertoli, LF
    Beutler, E
    BLOOD CELLS MOLECULES AND DISEASES, 2005, 34 (03) : 226 - 228
  • [29] Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
    Barton, JC
    Lee, PL
    Bertoli, LF
    Beutler, E
    BLOOD, 2004, 104 (11) : 6B - 7B
  • [30] A novel mutation of the erythroid-specific δ-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia
    Harigae, H
    Furuyama, K
    Kimura, A
    Neriishi, K
    Tahara, N
    Kondo, M
    Hayashi, N
    Yamamoto, M
    Sassa, S
    Sasaki, T
    BRITISH JOURNAL OF HAEMATOLOGY, 1999, 106 (01) : 175 - 177
12345