Factor VII deficiency induced by a homozygous missense mutation Thr359 Met (factor VII Toyama)

被引:0
|
作者
Sakuragawa, N [1 ]
Ozawa, T [1 ]
Niiya, K [1 ]
Higuchi, W [1 ]
机构
[1] TOYAMA MED & PHARMACEUT UNIV, DEPT CLIN LAB MED, TOYAMA 93001, JAPAN
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:P1687 / P1687
页数:1
相关论文
共 50 条
  • [21] Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency
    Germanos-Haddad, M
    de Moerloose, P
    Boehlen, F
    Peyvandi, B
    Neerman-Arbez, M
    HAEMATOLOGICA, 2005, 90 (03) : 418 - 419
  • [22] Factor VII deficiency: a double heterozygote of an Arg402Stop with a deletion of the C-terminal five amino acids and a Thr359Met
    Okamoto, Masataka
    Katsuda, Itsuro
    Ohshika, Yasuna
    Maruyama, Fumio
    Ezaki, Kohji
    Emi, Nobuhiko
    Ichihara, Yoshikazu
    EUROPEAN JOURNAL OF HAEMATOLOGY, 2009, 82 (05) : 405 - 407
  • [23] Factor VII deficiency and its treatment in delivery with recombinant factor VII
    Pehlivanov, B
    Milchev, N
    Kroumov, G
    EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2004, 116 (02) : 237 - 238
  • [24] Clinical phenotypes and factor VII genotype in congenital factor VII deficiency
    Mariani, G
    Herrmann, FH
    Dolce, A
    Batorova, A
    Etro, D
    Peyvandi, F
    Wulff, K
    Schved, JF
    Auerswald, G
    Ingerslev, J
    Bernardi, F
    THROMBOSIS AND HAEMOSTASIS, 2005, 93 (03) : 481 - 487
  • [25] Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency
    Zhou, Puhui
    Peng, Yan
    Li, Qingcheng
    Huang, Qingshui
    Kong, Yunyuan
    THROMBOSIS RESEARCH, 2024, 235 : 122 - 124
  • [26] Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency
    McVey, JH
    Boswell, EJ
    Takamiya, O
    Tamagnini, G
    Valente, V
    Fidalgo, T
    Layton, M
    Tuddenham, EGD
    BLOOD, 1998, 92 (03) : 920 - 926
  • [27] Factor VII gene intronic mutation in a lethal factor VII deficiency:: effects on splice-site selection
    Borensztajn, K
    Sobrier, ML
    Fischer, AM
    Chafa, O
    Amselem, S
    Tapon-Bretaudière, J
    BLOOD, 2003, 102 (02) : 561 - 563
  • [28] Identification of the factor VII Arg304Gln mutation in an Iranian population with factor VII deficiency.
    Peyvandi, F
    Mannucci, PM
    Abdollahi, M
    Perry, DJ
    BRITISH JOURNAL OF HAEMATOLOGY, 1998, 101 : 88 - 88
  • [29] A rare inherited coagulation disorder: Combined homozygous factor VII and factor X deficiency
    Menegatti, M
    Karimi, M
    Garagiola, I
    Mannucci, P
    Peyvandi, F
    AMERICAN JOURNAL OF HEMATOLOGY, 2004, 77 (01) : 90 - 91
  • [30] Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter
    Arbini, AA
    Pollak, ES
    Bayleran, JK
    High, KA
    Bauer, KA
    BLOOD, 1997, 89 (01) : 176 - 182