A novel mutation in the ALAS2 gene in a family with X-linked sideroblastic anaemia

被引：0
|
作者：
Percy, MJ
May, A
McMullin, MF
Cuthbert, RJG
机构：
[1] Belfast City Hosp, Dept Haematol, Belfast BT9 7AD, Antrim, North Ireland
[2] Univ Wales Coll Med, Dept Haematol, Cardiff CF4 4XN, S Glam, Wales
[3] Queens Univ Belfast, Dept Haematol, Belfast, Antrim, North Ireland
来源：
BRITISH JOURNAL OF HAEMATOLOGY | 2004年 / 125卷
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：
83
引用
收藏
页码：26 / 26
页数：1
相关论文
共 50 条
  • [1] Lethal ALAS2 mutation in males X-linked sideroblastic anaemia
    Rose, Christian
    Callebaut, Isabelle
    Pascal, Laurent
    Oudin, Claire
    Fournier, Martine
    Gouya, Laurent
    Lambilliotte, Anne
    Kannengiesser, Caroline
    BRITISH JOURNAL OF HAEMATOLOGY, 2017, 178 (04) : 648 - 651
  • [2] A NEW MUTATION OF THE ALAS2 GENE IN A LARGE FAMILY WITH X-LINKED SIDEROBLASTIC ANEMIA
    PRADES, E
    CHAMBON, C
    DAILEY, TA
    DAILEY, HA
    BRIERE, J
    GRANDCHAMP, B
    HUMAN GENETICS, 1995, 95 (04) : 424 - 428
  • [3] X-LINKED SIDEROBLASTIC ANEMIA: A PROMOTER MUTATION IN THE ALAS2 GENE
    Pereira, J.
    Pereira, A.
    Maia, T.
    Relvas, L.
    Almeida, H.
    Bento, C.
    Ribeiro, M. L.
    HAEMATOLOGICA, 2013, 98 : 419 - 420
  • [4] A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia
    Hurford, MT
    Marshall-Taylor, C
    Vicki, SL
    Zhou, JZ
    Silverman, LM
    Rezuke, WN
    Altman, A
    Tsongalis, GJ
    CLINICA CHIMICA ACTA, 2002, 321 (1-2) : 49 - 53
  • [5] A New Mutation Of The ALAS2 Gene In a Chinese Family With X-linked
    Cui, Rui
    Zhu, Guoqing
    Xu, Zefeng
    Zhang, Yue
    Huang, Gang
    Xiao, Zhijian
    BLOOD, 2013, 122 (21)
  • [6] A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia
    Lee, Jee-Soo
    Gu, JaYoon
    Yoo, Hyun Ju
    Koh, Youngil
    Kim, Hyun Kyung
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2017, 47 (03): : 319 - 322
  • [7] 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
  • [8] X-linked sideroblastic anaemia due to ALAS2 mutations in the Netherlands: a disease in disguise
    Donker, A. E.
    Raymakers, R. A.
    Nieuwenhuis, H. K.
    Coenen, M. J. H.
    Janssen, M. C.
    MacKenzie, M. A.
    Brons, P. P. T.
    Swinkels, D. W.
    NETHERLANDS JOURNAL OF MEDICINE, 2014, 72 (04): : 210 - 217
  • [9] Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia
    Qiu, Yu
    Cai, Hao
    Cui, Lijia
    Liu, Ying-xian
    Wang, Yi-ning
    Li, Jian
    Cao, Xin-xin
    ANNALS OF HEMATOLOGY, 2020, 99 (02) : 371 - 373
  • [10] 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)
12345