A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex

被引：16
|
作者：
Yu, Zheng [1 ,2 ]
Zhang, Xin [1 ,2 ]
Guo, Hong [1 ]
Bai, Yun [1 ]
机构：
[1] Third Mil Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing 400038, Peoples R China
[2] Third Mil Med Univ, Chongqing 400038, Peoples R China
来源：
JOURNAL OF GENETICS | 2014年 / 93卷 / 01期
基金：
中国国家自然科学基金;
关键词：
tuberous sclerosis complex; mutation; TSC2; family; CONSENSUS CONFERENCE; IDENTIFICATION; PHENOTYPE; GENOTYPE; GENETICS; GROWTH; GENES;
D O I：
10.1007/s12041-014-0320-0
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：169 / 172
页数：4
相关论文
共 50 条
  • [1] A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex
    ZHENG YU
    XIN ZHANG
    HONG GUO
    YUN BAI
    [J]. Journal of Genetics, 2014, 93 : 169 - 172
  • [2] A novel mutation (insTCCG) in the TSC2 gene in a Chinese patient with Tuberous sclerosis complex
    Yuan, Cheng-Da
    Chang, Xiao-Li
    Gao, Min
    Xiao, Feng-Li
    Wu, Yao-Qun
    Liu, Qin
    Shen, Song-Ke
    Liu, Jun-Lin
    Du, Wen-Hui
    Liu, Jian-Jun
    Yang, Sen
    Zhang, Xue-Jun
    Zhou, Fu-Sheng
    Fang, Qiao-Yun
    [J]. JOURNAL OF DERMATOLOGICAL SCIENCE, 2008, 49 (01) : 92 - 94
  • [3] A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex
    Hae-Jin Hu
    Yeun-Jun Chung
    Han-Wook Yoo
    Young-Hoon Kim
    Tae-Hoon Eom
    [J]. Neurological Sciences, 2014, 35 : 1487 - 1489
  • [4] A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex
    Hu, Hae-Jin
    Chung, Yeun-Jun
    Yoo, Han-Wook
    Kim, Young-Hoon
    Eom, Tae-Hoon
    [J]. NEUROLOGICAL SCIENCES, 2014, 35 (09) : 1487 - 1489
  • [5] A novel de novo mutation in the TSC2 gene in a Chinese patient with tuberous sclerosis complex
    Li, Wenzao
    Zhou, Peng
    Zhao, Congmin
    Zhang, Yuping
    [J]. JOURNAL OF NEUROGENETICS, 2016, 30 (3-4) : 285 - 287
  • [6] Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex
    Yuhuan Meng
    Changshun Yu
    Meijun Chen
    Xiaokang Yu
    Mingming Sun
    Hui Yan
    Weiwei Zhao
    Shihui Yu
    [J]. Journal of Human Genetics, 2021, 66 : 227 - 236
  • [7] A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation
    O'Connor, SE
    Kwiatkowski, DJ
    Roberts, PS
    Wollmann, RL
    Huttenlocher, PR
    [J]. NEUROLOGY, 2003, 61 (03) : 409 - 412
  • [8] Novel nonsense mutation of the TSC2 gene in a case of tuberous sclerosis complex
    Chen, Hui
    Lin, Xuefei
    Lian, Shi
    Zhu, Wei
    [J]. EUROPEAN JOURNAL OF DERMATOLOGY, 2016, 26 (03) : 295 - 296
  • [9] Novel nonsense mutation of the TSC2 gene in a case of tuberous sclerosis complex
    Hui Chen
    Xuefei Lin
    Shi Lian
    Wei Zhu
    [J]. European Journal of Dermatology, 2016, 26 : 295 - 296
  • [10] Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex
    You, Jiabao
    Liu, Hong
    Fu, Xi'an
    Chen, Mingfei
    Niu, Guiye
    Tian, Hongqing
    Zhang, Furen
    [J]. INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2013, 79 (01): : 104 - 105
12345