Two novel mutations of the NF1 gene in Chinese Han families with type I neurofibromatosis

被引：5
|
作者：
Cai, YJ
Fan, ZP
Liu, QJ
Du, J
Shen, Y
Wang, SL
机构：
[1] Capital Univ Med Sci, Fac Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China
[2] Beijing Hosp, Dept Stomatol, Beijing 100730, Peoples R China
[3] Chinese Natl Human Genome Ctr, Beijing 100176, Peoples R China
[4] Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China
来源：
JOURNAL OF DERMATOLOGICAL SCIENCE | 2005年 / 39卷 / 02期
关键词：
D O I：
10.1016/j.jdermsci.2005.05.003
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：125 / 127
页数：3
相关论文
共 50 条
  • [1] Identification of two novel mutations in the NF1 gene in Chinese patients with neurofibromatosis type 1
    Chen, Bin
    Sun, Liang-Dan
    Zhou, Fu-Sheng
    Yao, Feng-Ming
    Quan, Cheng
    Fang, Qiao-Yun
    Chen, Qiu-Ping
    Fan, Xing
    Yang, Sen
    Zhang, Xue-Jun
    [J]. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2009, 23 (03) : 362 - 363
  • [2] Two novel mutations of NF1 gene identified in Chinese patients with severe neurofibromatosis type 1
    Zheng, Yuxin
    Qiu, Guiying
    Dai, Huatuo
    Zhu, Chengyao
    Xue, Dan
    Ren, Yunqing
    [J]. INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2020, 86 (01): : 76 - +
  • [3] Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene
    Hudson, J
    Wu, CL
    Tassabehji, M
    Summers, EM
    Simon, S
    Super, M
    Donnai, D
    Thakker, N
    [J]. HUMAN MUTATION, 1997, 9 (04) : 366 - 367
  • [4] Six novel mutations in the neurofibromatosis type 1 (NF1) gene
    Upadhyaya, M
    Maynard, J
    Osborn, M
    Harper, PS
    [J]. HUMAN MUTATION, 1997, 10 (03) : 248 - 250
  • [5] NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series
    Wu, Ting
    Yang, Hao
    Xu, Liuli
    Huang, Qing
    He, Qi
    Wu, Rong
    Mu, Yun-Zhu
    [J]. CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY, 2022, 15 : 2345 - 2351
  • [6] Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
    Bendova, Sarka
    Krepelova, Anna
    Petrak, Borivoj
    Kinstova, Lenka
    Musova, Zuzana
    Rausova, Eva
    Marikova, Latana
    [J]. JOURNAL OF MOLECULAR NEUROSCIENCE, 2007, 31 (03) : 273 - 279
  • [7] Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
    Sarka Bendova
    Anna Krepelova
    Borivoj Petrak
    Lenka Kinstova
    Zuzana Musova
    Eva Rausova
    Tatana Marikova
    [J]. Journal of Molecular Neuroscience, 2007, 31 (3) : 273 - 279
  • [8] A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1
    He, Qi
    Jiang, Jingjing
    Yang, Jiao
    Zeng, Junjie
    Zhang, Huan
    Zhang, Zhengzhong
    [J]. AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH, 2022, 14 (07): : 5139 - 5145
  • [9] Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1
    Chen, Linlin
    Xue, Feng
    Xu, Jia
    He, Jinwei
    Fu, Wenzhen
    Zhang, Zhenlin
    Kang, Qinglin
    [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (09):
  • [10] Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1
    Heng Xiao
    Lamei Yuan
    Hongbo Xu
    Zhijian Yang
    Feizhou Huang
    Zhi Song
    Yan Yang
    Cheng Zeng
    Hao Deng
    [J]. Journal of Molecular Neuroscience, 2018, 65 : 557 - 563
12345