Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)

被引：0
|
作者：
Rando Allikmets
Wendy H Raskind
Amy Hutchinson
Nichole D Schueck
Michael Dean
David M Koeller
机构：
[1] Laboratory of Genomic Diversity,Department of Medicine
[2] National Cancer Institute,Department of Pediatrics
[3] University of Washington,undefined
[4] University of Colorado Health Sciences Center,undefined
来源：
Pediatric Research | 1999年 / 45卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：135 / 135
相关论文
共 50 条
  • [21] A Rare Case of X-Linked Recessive Sideroblastic Anemia (XLSA) Masquerading as Myelodysplastic Syndrome-Refractory Anemia With Ringed Sideroblasts (MDS - RARS)
    Reddy, Vijay Ketan
    Shrestha, Dhan Bahadur
    Gaire, Suman
    Kassem, Mohammed
    Khosla, Paramjeet
    CLINICAL LYMPHOMA MYELOMA & LEUKEMIA, 2022, 22 : S320 - S320
  • [22] The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review
    Xiong, Shiqiu
    Jia, Yang
    Li, Shijun
    Huang, Peng
    Xiong, Jie
    Mao, Dingan
    He, Qingnan
    Liu, Liqun
    FRONTIERS IN PEDIATRICS, 2021, 9
  • [23] An Erythroid-Specific Lentiviral Vector Improves Anemia and Iron Metabolism in a New Model of Alas2 Knock-Out X-Linked Sideroblastic Anemia (XLSA)
    Castracani, Carlo Castruccio
    Guerra, Amaliris
    Breda, Laura
    Rivella, Stefano
    MOLECULAR THERAPY, 2023, 31 (04) : 537 - 538
  • [24] 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
  • [25] A New ALAS2 Mutation Inducing a Male Lethal X-Linked Sideroblastic Anemia
    Rose, Christian
    Oudin, Claire
    Fournier, Martine
    Bouquet, Alexandre
    Inchiappa, Luca
    Grandchamp, Bernard
    Gouya, Laurent
    Kannengiesser, Caroline
    BLOOD, 2013, 122 (21)
  • [26] PUTATIVE X-LINKED ADRENOLEUKODYSTROPHY GENE SHARES UNEXPECTED HOMOLOGY WITH ABC TRANSPORTERS
    MOSSER, J
    DOUAR, AM
    SARDE, CO
    KIOSCHIS, P
    FEIL, R
    MOSER, H
    POUSTKA, AM
    MANDEL, JL
    AUBOURG, P
    NATURE, 1993, 361 (6414) : 726 - 730
  • [27] A novel mutation in the ALAS2 gene in a family with X-linked sideroblastic anaemia
    Percy, MJ
    May, A
    McMullin, MF
    Cuthbert, RJG
    BRITISH JOURNAL OF HAEMATOLOGY, 2004, 125 : 26 - 26
  • [28] Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia
    Li, Jing
    Chen, Long
    Lin, Yani
    Ru, Kun
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2020, 42 (04) : E160 - E163
  • [29] A Novel Hemizygous 1418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia
    Moon, Soo Young
    Jun, In-Jae
    Kim, Ji-Eun
    Lee, Seung Jun
    Kim, Hyun Kyung
    Yoon, Sung-Soo
    ANNALS OF LABORATORY MEDICINE, 2014, 34 (02) : 159 - 162
  • [30] A NOVEL MUTATION IN EXON 11 OF THE ALAS2 GENE(11BP DEL) RESULTS IN X-LINKED SIDEROBLASTIC ANEMIA
    Al Madhani, A.
    Alkindi, S.
    Al Zadjali, S.
    Pathare, A.
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2008, 93 : 442 - 442
12345