A Clinical Test for Direct Sequencing and MLPA Analysis of SERPINC1 to Facilitate Diagnosis of Antithrombin Deficiency

被引:0
|
作者
Guenther, J. [1 ]
Patnaik, M. [1 ]
Pruthi, R. [1 ]
Heit, J. [1 ]
机构
[1] Mayo Clin, Rochester, MN USA
来源
JOURNAL OF MOLECULAR DIAGNOSTICS | 2010年 / 12卷 / 06期
关键词
D O I
暂无
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
引用
收藏
页码:864 / 864
页数:1
相关论文
共 50 条
  • [21] Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency
    Véronique Picard
    Jian-Min Chen
    Brigitte Tardy
    Marie-Françoise Aillaud
    Christine Boiteux-Vergnes
    Marie Dreyfus
    Joseph Emmerich
    Cécile Lavenu-Bombled
    Ulrike Nowak-Göttl
    Nathalie Trillot
    Martine Aiach
    Martine Alhenc-Gelas
    Human Genetics, 2010, 127 : 45 - 53
  • [22] Molecular modeling of a novel mutation in the SERPINC1 gene associated with type 1 antithrombin deficiency
    Wang, T-F
    Dawson, J. E.
    Forman-Kay, J. D.
    Kahr, W. H. A.
    Williams, S.
    Chan, A. K.
    Kumar, R.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2015, 13 : 704 - 704
  • [23] Regulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiency
    Eugenia de la Morena-Barrio, Maria
    Isabel Anton, Ana
    Martinez-Martinez, Irene
    Padilla, Jose
    Minano, Antonia
    Navarro-Fernandez, Jose
    Aguila, Sonia
    Fernanda Lopez, Maria
    Fontcuberta, Jordi
    Vicente, Vicente
    Corral, Javier
    THROMBOSIS RESEARCH, 2012, 130 : S118 - S118
  • [24] Cerebral venous sinus thrombosis in child with antithrombin deficiency and novel SERPINC1 variant
    Hiroshi Yokota
    Makoto Miyazaki
    Chinatsu Kinjo
    Shigetoyo Kogaki
    Jun- Ichi Iida
    Acta Neurologica Belgica, 2021, 121 : 811 - 814
  • [25] New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV
    Nowak, Weronika
    Trelinski, Jacek
    Wypasek, Ewa
    de la Morena-Barrio, Belen
    de la Morena-Barrio, Maria Eugenia
    Corral, Javier
    POLISH ARCHIVES OF INTERNAL MEDICINE-POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ, 2022, 132 (01):
  • [26] A clinical test for direct sequencing of the PROC gene to facilitate diagnosis of protein C deficiency
    Guenther, J.
    Lokken, T.
    Pruthi, R.
    Heit, J.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2006, 8 (05): : 630 - 630
  • [27] SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency
    Ruf, Maximilian
    Cunningham, Sarah
    Wandersee, Alexandra
    Brox, Regine
    Achenbach, Susanne
    Strobel, Julian
    Hackstein, Holger
    Schneider, Sabine
    THROMBOSIS JOURNAL, 2024, 22 (01)
  • [28] Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency
    Zeng, Wei
    Hu, Bei
    Tang, Liang
    You, Yan-Yan
    Toderici, Mara
    Eugenia de la Morena-Barrio, Maria
    Corral, Javier
    Hu, Yu
    ONCOTARGET, 2017, 8 (48) : 84417 - 84425
  • [29] SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency
    Maximilian Ruf
    Sarah Cunningham
    Alexandra Wandersee
    Regine Brox
    Susanne Achenbach
    Julian Strobel
    Holger Hackstein
    Sabine Schneider
    Thrombosis Journal, 22
  • [30] Genetic variability and promoter mutations in the SERPINC1 gene: implication for interindividual variations of antithrombin deficiency
    de la Morena-Barrio, M. E.
    Anton, A., I
    Martinez-Martinez, I
    Padilla, J.
    Minano, A.
    Navarro-Fernandez, J.
    Velazquez, L.
    Aguila, S.
    Bohdan, N.
    Vicente, V.
    Corral, J.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2011, 9 : 818 - 818