Factor XIII Deficiency with a Novel Nonsense Mutation

被引：0
|
作者：
Vipin Khandelwal
Sanjeev Kumar Sharma
Divya Doval
Meet Kumar
Dharma Choudhary
Rachna Sharma
Vedam L. Ramprasad
机构：
[1] BLK Superspeciality Hospital,Department of Hemato
[2] BLK Superspeciality Hospital,Oncology and Bone Marrow Transplantation
[3] MedGenome Labs Ltd,Department of Pediatric Critical Care, Center for Child Health
来源：
Indian Journal of Hematology and Blood Transfusion | 2020年 / 36卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：588 / 589
页数：1
相关论文
共 50 条
  • [1] Factor XIII Deficiency with a Novel Nonsense Mutation
    Khandelwal, Vipin
    Sharma, Sanjeev Kumar
    Doval, Divya
    Kumar, Meet
    Choudhary, Dharma
    Sharma, Rachna
    Ramprasad, Vedam L.
    INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION, 2020, 36 (03) : 588 - 589
  • [2] Identification of a novel nonsense mutation leading to congenital factor XIII deficiency
    Li, Bojun
    Borhany, Munira
    Abid, Madiha
    Kohler, Hans P.
    Schroeder, Verena
    THROMBOSIS RESEARCH, 2018, 165 : 83 - 85
  • [3] Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency
    Yan, Lijie
    Wang, Tiantian
    Qiu, Jihua
    Zhang, Xinsheng
    Peng, Jun
    Fang, Yunhai
    Sheng, Zi
    INTERNATIONAL JOURNAL OF HEMATOLOGY, 2023, 118 (01) : 26 - 35
  • [4] Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency
    Lijie Yan
    Tiantian Wang
    Jihua Qiu
    Xinsheng Zhang
    Jun Peng
    Yunhai Fang
    Zi Sheng
    International Journal of Hematology, 2023, 118 : 26 - 35
  • [5] FACTOR-XIII A(BRISTOL 1) - DETECTION OF A NONSENSE MUTATION (ARG(171)-]STOP CODON) IN FACTOR-XIII A SUBUNIT DEFICIENCY
    STANDEN, GR
    BOWEN, DJ
    BRITISH JOURNAL OF HAEMATOLOGY, 1993, 85 (04) : 769 - 772
  • [6] Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation
    Khalife, Hassan
    Muwakkit, Samar
    Al-Moussawi, Hayfa
    Dabbous, Ibrahim
    Khoury, Ruby
    Peyvandi, Flora
    Abboud, Miguel R.
    PEDIATRIC BLOOD & CANCER, 2008, 50 (01) : 113 - 114
  • [7] Factor XIII mutation spectrum in Iranian patients with hereditary factor XIII deficiency: Detection of 3 novel mutations
    Mirakhorli, Mojgan
    Farahbakhsh, Faegheh Behboudi
    Baghaipour, Mohammad Reza
    Mahmoudi, Touraj
    Jazebi, Mohammad
    Tabatabaei, Seyed Mohammadreza
    Aala, Fereydoun
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2019, 41 (03) : E61 - E65
  • [8] Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency
    García, EBG
    Poort, SR
    Stibbe, J
    Sturk, A
    Schaap, MCL
    Kappers, M
    Bertina, RM
    BRITISH JOURNAL OF HAEMATOLOGY, 2001, 112 (02) : 513 - 518
  • [9] Novel aspects of factor XIII deficiency
    Muszbek, Laszlo
    Bagoly, Zsuzsa
    Cairo, Andrea
    Peyvandi, Flora
    CURRENT OPINION IN HEMATOLOGY, 2011, 18 (05) : 366 - 372
  • [10] Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene
    Anwar, Rashida
    Gallivan, Louise
    Richards, Michael
    Khair, Kate
    Wright, Michael
    Minford, Adrian
    HAEMATOLOGICA, 2005, 90 (12) : 1718 - +
12345