HETEROGENEITY OF MOLECULAR DEFECTS OF ERYTHROID 5-AMINOLEVULINATE SYNTHASE IN X-LINKED SIDEROBLASTIC ANEMIA

被引：0
|
作者：
BOTTOMLEY, SS
WISE, PD
WHETSELL, LH
SCHAEFER, FV
机构：
[1] UNIV OKLAHOMA,HLTH SCI CTR,OKLAHOMA CITY,OK 73190
[2] CHILDRENS MED CTR,HA CHAPMAN RES INST MED GENET,TULSA,OK
来源：
BLOOD | 1993年 / 82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：A433 / A433
页数：1
相关论文
共 50 条
  • [41] HUMAN ERYTHROID 5-AMINOLEVULINATE SYNTHASE HAS 4 TRANSCRIPTS DUE TO ALTERNATIVE SPLICING
    BOTTOMLEY, SS
    WISE, PD
    WHETSELL, LH
    SCHAEFER, FV
    BLOOD, 1994, 84 (10) : A361 - A361
  • [42] HEREDITARY SIDEROBLASTIC ANEMIA AND ATAXIA - AN X-LINKED RECESSIVE DISORDER
    PAGON, RA
    BIRD, TD
    DETTER, JC
    PIERCE, I
    JOURNAL OF MEDICAL GENETICS, 1985, 22 (04) : 267 - 273
  • [43] Establishment and Characterization of in Vitro Model of X-Linked Sideroblastic Anemia
    Saito, Kei
    Fujiwara, Tohru
    Hatta, Shunsuke
    Okitsu, Yoko
    Fukuhara, Noriko
    Onishi, Yasushi
    Nakamura, Yukio
    Harigae, Hideo
    BLOOD, 2017, 130
  • [44] ESTABLISHMENT OF IN VIVO AND IN VITRO MODEL OF X-LINKED SIDEROBLASTIC ANEMIA
    Saito, K.
    Fujiwara, T.
    Morita, M.
    Okitsu, Y.
    Fukuhara, N.
    Onishi, Y.
    Nakamura, Y.
    Shimizu, R.
    Harigae, H.
    HAEMATOLOGICA, 2017, 102 : 241 - 241
  • [45] Exploring the Potential Usefulness of 5-Aminolevulinic Acid for X-Linked Sideroblastic Anemia
    Fujiwara, Tohru
    Niikuni, Ryoyu
    Okamoto, Koji
    Okitsu, Yoko
    Fukuhara, Noriko
    Onishi, Yasushi
    Ishizawa, Kenichi
    Ichinohasama, Ryo
    Nakamura, Yukio
    Tanaka, Tohru
    Harigae, Hideo
    BLOOD, 2014, 124 (21)
  • [46] HEREDITARY SIDEROBLASTIC ANEMIA AND ATAXIA - AN X-LINKED RECESSIVE DISORDER
    PAGON, RA
    BIRD, TD
    DETTER, JC
    AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) : A109 - A109
  • [47] Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria
    Balwani M.
    Doheny D.
    Bishop D.F.
    Nazarenko I.
    Yasuda M.
    Dailey H.A.
    Anderson K.E.
    Montgomery Bissell D.
    Bloomer J.
    Bonkovsky H.L.
    Phillips J.D.
    Liu L.
    Desnick R.J.
    Molecular Medicine, 2013, 19 (1) : 26 - 35
  • [48] Erythroid-specific 5-aminolevulinate synthase protein is stabilized by low oxygen and proteasomal inhibition
    Abu-Farha, M
    Niles, J
    Willmore, WG
    BIOCHEMISTRY AND CELL BIOLOGY, 2005, 83 (05) : 620 - 630
  • [49] Erythroid 5-aminolevulinate synthase mediates the upregulation of membrane band 3 protein expression by iron
    Huang, Qianchuan
    Li, Jinying
    Feng, Weihua
    Xu, Yanqun
    Huang, Zhenxia
    Lv, Shuqing
    Zhou, Hong
    Gao, Lei
    CELL BIOCHEMISTRY AND FUNCTION, 2010, 28 (02) : 122 - 125
  • [50] X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia
    Aivado, M
    Gattermann, N
    Bottomley, S
    BLOOD, 2001, 97 (12) : 4000 - 4001
12345