Two novel mutations at contiguous codons in the fibrinogen Bβ chain associated with hypofibrinogenaemia

被引：4
作者：
Davis, Ryan L. [1 ]
May, Stephen [2 ]
Chunilal, Sanjeev [3 ]
Brennan, Stephen O. [1 ,4 ]
机构：
[1] Univ Otago, Mol Pathol Lab, Christchurch 8014, New Zealand
[2] Pathlab Waikato, Hamilton, New Zealand
[3] Royal N Shore Hosp, Auckland, New Zealand
[4] Canterbury Hlth Labs, Mol Pathol Lab, Christchurch, New Zealand
来源：
THROMBOSIS AND HAEMOSTASIS | 2009年 / 101卷 / 05期
关键词：
MISSENSE MUTATION; SECRETION; IDENTIFICATION; VARIANTS; DOMAIN;
D O I：
10.1160/TH08-11-0727
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：980 / 982
页数：3
相关论文
共 12 条
  • [1] CZWALINNA A, 2003, ANN HEMATOL S1, V82, pS18
  • [2] CZWALINNA A, 2005, J THROMB HAEMOST S1, V3
  • [3] de Raucourt E, 2005, THROMB HAEMOSTASIS, V94, P965
  • [4] Hanss M, 2001, ANN NY ACAD SCI, V936, P89
  • [5] Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue;: Bβ255 Arg→His (Fibrinogen Merivale)
    Maghzal, GJ
    Brennan, SO
    Fellowes, AP
    Spearing, R
    George, PM
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS, 2003, 1645 (02): : 146 - 151
  • [6] Meyer M, 2003, THROMB HAEMOSTASIS, V89, P637
  • [7] Congenital hypofibrinogenemia: Characterization of two missense mutations affecting fibrinogen assembly and secretion
    Plate, Manuela
    Asselta, Rosanna
    Spena, Silvia
    Spreafico, Marta
    Fagoonee, Sharmila
    Peyvandi, Flora
    Tenchini, Maria Luisa
    Duga, Stefano
    [J]. BLOOD CELLS MOLECULES AND DISEASES, 2008, 41 (03) : 292 - 297
  • [8] Human non-synonymous SNPs: server and survey
    Ramensky, V
    Bork, P
    Sunyaev, S
    [J]. NUCLEIC ACIDS RESEARCH, 2002, 30 (17) : 3894 - 3900
  • [9] Fibrinogen Montreal:: A novel missense mutation (Aα D496N) associated with hypofibrinogenaemia
    Sheen, Campbell R.
    Brennan, Stephen O.
    Jabado, Nada
    George, Peter M.
    [J]. THROMBOSIS AND HAEMOSTASIS, 2006, 96 (02) : 231 - 232
  • [10] Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the γ chain globular domain impairing fibrinogen secretion -: art. no. e57
    Vu, D
    de Moerloose, P
    Batorova, A
    Lazur, J
    Palumbo, L
    Neerman-Arbez, M
    [J]. JOURNAL OF MEDICAL GENETICS, 2005, 42 (09) : e57
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