Congenital factor XIII deficiency: A commentary on ‘Homozygous intronic mutation leading to inefficient transcription combined with a novel frame-shift mutation in F13A1 gene causes FXIII deficiency’

被引：0
|
作者：
Keiko Shinozawa
机构：
[1] Tokyo Medical University,Department of Molecular Genetics of Coagulation Disorders
来源：
Journal of Human Genetics | 2011年 / 56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：475 / 476
页数：1
相关论文
共 11 条
  • [1] Congenital factor XIII deficiency: A commentary on 'Homozygous intronic mutation leading to inefficient transcription combined with a novel frame-shift mutation in F13A1 gene causes FXIII deficiency'
    Shinozawa, Keiko
    JOURNAL OF HUMAN GENETICS, 2011, 56 (07) : 475 - 476
  • [2] Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency
    Wei Wang
    Lijun Huang
    Qiuling Ma
    Deqian Xiao
    Xiaodan Chen
    Zhigang Yang
    Xiaoying Wang
    Keyuan Zhou
    Gang Li
    Man Xiao
    Guankui Du
    Xinbao Hao
    Wangwei Cai
    Journal of Human Genetics, 2011, 56 : 460 - 463
  • [3] Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency
    Wang, Wei
    Huang, Lijun
    Ma, Qiuling
    Xiao, Deqian
    Chen, Xiaodan
    Yang, Zhigang
    Wang, Xiaoying
    Zhou, Keyuan
    Li, Gang
    Xiao, Man
    Du, Guankui
    Hao, Xinbao
    Cai, Wangwei
    JOURNAL OF HUMAN GENETICS, 2011, 56 (06) : 460 - 463
  • [4] Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency
    Jia, Siyuan
    He, Yunyan
    Lu, Meirong
    Liao, Ning
    Lei, Yonghong
    Lauriane, Nikuze
    Liang, Kairong
    Wei, Hongying
    GENE, 2019, 702 : 143 - 147
  • [5] A novel F13A1 gene mutation (Arg208Pro) in a Chinese patient with factor XIII deficiency
    Xie, Haixiao
    Wang, Mingshan
    Jin, Yanhui
    Li, Xiaolong
    Jiang, Shuting
    Yang, Lihong
    BLOOD COAGULATION & FIBRINOLYSIS, 2022, 33 (06) : 337 - 341
  • [6] Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency
    Jang, Mi-Ae
    Park, Young Shil
    Lee, Ki-O
    Kim, Hee-Jin
    BLOOD COAGULATION & FIBRINOLYSIS, 2015, 26 (01) : 46 - 49
  • [7] Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency
    Deng, Jun
    Li, Dan
    Mei, Heng
    Tang, Liang
    Wang, Hua-fang
    Hu, Yu
    BMC MEDICAL GENETICS, 2020, 21 (01)
  • [8] Factor XIII Deficiency in Western Afghanistan due to a Novel F13A Gene Mutation
    Mousavi, Sayed Hamid
    Zeinali, Sirous
    Mesbah-Namin, Seyed Alireza
    Shams, Mahmood
    Dorgalaleh, Akbar
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2020, 42 (01) : E1 - E3
  • [9] A novel compound heterozygous mutation in the F13A gene causing hereditary factor XIII deficiency in a Chinese family
    Wu, S
    Wang, Z
    Dong, N
    Bai, X
    Ruan, C
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2006, 4 (01) : 267 - 269
  • [10] Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management
    Andrés Moret
    Ángel Zúñiga
    Javier Marco Ayala
    Alessandro Liquori
    Ana Rosa Cid
    Saturnino Haya
    Fernando Ferrando
    Amando Blanquer
    José Cervera
    Santiago Bonanad
    Journal of Thrombosis and Thrombolysis, 2020, 50 : 686 - 688
12