A Novel GATA1 Mutation (Ter414Arg) in a Family with the Rare X-Linked Blood Group Lu(a-b-) Phenotype

被引:0
|
作者
Singleton, Belinda K. [2 ,3 ]
Roxby, David [4 ]
Stirling, John [4 ]
Spring, Frances A. [2 ,3 ]
Wilson, Carolyn [1 ]
Poole, Joyce [2 ,3 ]
Anstee, David J. [2 ,3 ]
机构
[1] Australian Red Cross Blood Serv, Adelaide, SA, Australia
[2] NHS Blood & Transplant, Bristol Inst Transfus Sci, Bristol, Avon, England
[3] NHS Blood & Transplant, Int Blood Grp, Reference Lab, Bristol, Avon, England
[4] Flinders Med Ctr, SA Pathol, Bedford Pk, SA, Australia
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:783 / 783
页数:1
相关论文
共 11 条
  • [1] A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia
    Singleton, Belinda K.
    Roxby, David J.
    Stirling, John W.
    Spring, Frances A.
    Wilson, Carolyn
    Poole, Joyce
    Anstee, David J.
    BRITISH JOURNAL OF HAEMATOLOGY, 2013, 161 (01) : 139 - 142
  • [2] X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation
    Tubman, Venee N.
    Levine, Jason E.
    Campagna, Dean R.
    Monahan-Earley, Rita
    Dvorak, Ann M.
    Neufeld, Ellis J.
    Fleming, Mark D.
    BLOOD, 2007, 109 (08) : 3297 - 3299
  • [3] Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation
    Freson, K
    Devriendt, K
    Matthijs, G
    Van Hoof, A
    De Vos, R
    Thys, C
    Minner, K
    Hoylaerts, MF
    Vermylen, J
    Van Geet, C
    BLOOD, 2001, 98 (01) : 85 - 92
  • [4] X-linked gray platelet syndrome due to a GATA1 Arg216GIn mutation.
    Tubman, VN
    Levine, JE
    Campagna, DR
    Fleming, MD
    Neufeld, EJ
    BLOOD, 2005, 106 (11) : 6A - 6A
  • [5] Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome"
    Balduini, Carlo L.
    De Candia, Erica
    Savola, Anna
    BLOOD, 2007, 110 (07) : 2770 - 2771
  • [6] A novel 519_525dup mutation of KLF1 gene identified in a Chinese blood donor with Lu(a-b-) phenotype
    Wang, Zhen
    Luo, Guangping
    Ji, Yanli
    TRANSFUSION, 2013, 53 (07) : 1619 - 1620
  • [7] X-linked spinocerebellar ataxia (SCA) type 1A: a novel late onset phenotype of the ATP2B3 mutation
    Stephen, Christopher
    Sweadner, Kathleen
    Penniston, John
    Schmahmann, Jeremy
    NEUROLOGY, 2016, 86
  • [8] Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation
    Vargas, Michelle Cerutti C.
    Moura, Felipe Scipiao
    Elias, Cecilia P.
    Carvalho, Sara R.
    Rassi, Nelson
    Kunii, Ilda S.
    Dias-da-Silva, Magnus R.
    Costa-Barbosa, Flavia Amanda
    BMC ENDOCRINE DISORDERS, 2020, 20 (01)
  • [9] Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation
    Michelle Cerutti C. Vargas
    Felipe Scipião Moura
    Cecília P. Elias
    Sara R. Carvalho
    Nelson Rassi
    Ilda S. Kunii
    Magnus R. Dias-da-Silva
    Flavia Amanda Costa-Barbosa
    BMC Endocrine Disorders, 20
  • [10] Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE
    Beauvais, K
    Furby, A
    Latour, P
    NEUROMUSCULAR DISORDERS, 2006, 16 (01) : 14 - 18