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
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
  • [1] MOLECULAR DEFECTS OF ERYTHROID 5-AMINOLEVULINATE SYNTHASE IN X-LINKED SIDEROBLASTIC ANEMIA
    BOTTOMLEY, SS
    MAY, BK
    COX, TC
    COTTER, PD
    BISHOP, DF
    JOURNAL OF BIOENERGETICS AND BIOMEMBRANES, 1995, 27 (02) : 161 - 168
  • [2] HETEROGENEITY OF MOLECULAR DEFECTS OF ERYTHROID 5-AMINOLEVULINATE SYNTHASE IN X-LINKED SIDEROBLASTIC ANEMIA
    BOTTOMLEY, SS
    WISE, PD
    WHETSELL, LH
    SCHAEFER, FV
    BLOOD, 1993, 82 (10) : A433 - A433
  • [3] Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene
    Furuyama, K
    Fujita, H
    Nagai, T
    Yomogida, K
    Munakata, H
    Kondo, M
    Kimura, A
    Kuramoto, A
    Hayashi, N
    Yamamoto, M
    BLOOD, 1997, 90 (02) : 822 - 830
  • [4] X-LINKED PYRIDOXINE-RESPONSIVE SIDEROBLASTIC ANEMIA DUE TO A THR(388)-TO-SER SUBSTITUTION IN ERYTHROID 5-AMINOLEVULINATE SYNTHASE
    COX, TC
    BOTTOMLEY, SS
    WILEY, JS
    BAWDEN, MJ
    MATTHEWS, CS
    MAY, BK
    NEW ENGLAND JOURNAL OF MEDICINE, 1994, 330 (10): : 675 - 679
  • [5] A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia
    Bekri, S
    May, A
    Cotter, PD
    Al-Sabah, AI
    Guo, XJ
    Masters, GS
    Bishop, DF
    BLOOD, 2003, 102 (02) : 698 - 704
  • [6] 5-AMINOLEVULINATE SYNTHASE IS AT 3P21 AND THUS NOT THE PRIMARY DEFECT IN X-LINKED SIDEROBLASTIC ANEMIA
    SUTHERLAND, GR
    BAKER, E
    CALLEN, DF
    HYLAND, VJ
    MAY, BK
    BAWDEN, MJ
    HEALY, HM
    BORTHWICK, IA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1988, 43 (03) : 331 - 335
  • [7] The spectrum of molecular defects in the erythroid 5-aminolevulinate synthase gene in hereditary sideroblastic anemia.
    Bottomley, SS
    Wise, PD
    Wasson, EG
    Carpenter, NJ
    BLOOD, 1998, 92 (10) : 669A - 669A
  • [8] ENZYMATIC DEFECT IN X-LINKED SIDEROBLASTIC ANEMIA - MOLECULAR EVIDENCE FOR ERYTHROID DELTA-AMINOLEVULINATE SYNTHASE DEFICIENCY
    COTTER, PD
    BAUMANN, M
    BISHOP, DF
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (09) : 4028 - 4032
  • [9] Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release
    Fratz, Erica J.
    Clayton, Jerome
    Hunter, Gregory A.
    Ducamp, Sarah
    Breydo, Leonid
    Uversky, Vladimir N.
    Deybach, Jean-Charles
    Gouya, Laurent
    Puy, Herve
    Ferreira, Gloria C.
    BIOCHEMISTRY, 2015, 54 (36) : 5617 - 5631
  • [10] Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria
    Bishop, David F.
    Tchaikovskii, Vassili
    Nazarenko, Irina
    Desnick, Robert J.
    MOLECULAR MEDICINE, 2013, 19 : 18 - 25