A recurrent p. A353V mutation in DKC1 responsible for different phenotypes of dyskeratosis congenita in a Chinese family

被引：2
|
作者：
Lai, W. [2 ]
Deng, W. P. [2 ]
Liu, X. [1 ]
Chen, H. M. [1 ]
Dai, Sh. X. [1 ]
机构：
[1] Guangdong Acad Med Sci, Guangdong Prov Peoples Hosp, Dept Dermatol, Guangzhou 510080, Guangdong, Peoples R China
[2] Sun Yat Sen Univ, Affiliated Hosp 3, Dept Dermatol, Guangzhou 510630, Guangdong, Peoples R China
来源：
JOURNAL OF DERMATOLOGICAL SCIENCE | 2011年 / 63卷 / 02期
关键词：
TELOMERASE;
D O I：
10.1016/j.jdermsci.2011.04.009
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：122 / 124
页数：3
相关论文
共 38 条
  • [31] Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report
    Jing Chen
    Xiaomin Ma
    Yulin Zhou
    Guimei Li
    Qiwei Guo
    BMC Pediatrics, 17
  • [32] Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report
    Chen, Jing
    Ma, Xiaomin
    Zhou, Yulin
    Li, Guimei
    Guo, Qiwei
    BMC PEDIATRICS, 2017, 17
  • [33] Identification and in silico characterization of a novel p. P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
    Ajmal, Muhammad
    Mir, Asif
    Wahid, Sughra
    Khor, Chiea Chuen
    Foo, Jia Nee
    Siddiqi, Saima
    Kauser, Mehran
    Malik, Salman Akbar
    Nasir, Muhammad
    BMC MEDICAL GENETICS, 2017, 18
  • [34] Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1
    Wu, Kan
    Li, Zhumei
    Zhu, Yuhua
    Wang, Xiaocheng
    Chen, Guohui
    Hou, Zhaohui
    Zhang, Qiujing
    BMC MEDICAL GENOMICS, 2021, 14 (01)
  • [35] Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1
    Kan Wu
    Zhumei Li
    Yuhua Zhu
    Xiaocheng Wang
    Guohui Chen
    Zhaohui Hou
    Qiujing Zhang
    BMC Medical Genomics, 14
  • [36] A novel mutation (P.V228F) in activin receptor-like kinase 1 gene causing Chinese family herediterary hemorrhagic telangiectasia
    Jiang, L. L.
    Lu, Y. L.
    Wang, X. F.
    Ding, Q. L.
    Dai, J.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2011, 9 : 952 - 952
  • [37] A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa:: More severe phenotype in female members of a Chinese family
    Deng, Weiping
    Chen, Suqin
    Lu, Chun
    Zhou, Xiang
    Hu, Bin
    Chen, Minghua
    Lai, Wei
    Wang, Yiming
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2008, 49 (02) : 166 - 169
  • [38] A Novel p. Gly630Ser Mutation of COL2A1 in a Chinese Family with Presentations of Legg-Calve-Perthes Disease or Avascular Necrosis of the Femoral Head
    Li, Na
    Yu, Jian
    Cao, Xiang
    Wu, Qiu-Yue
    Li, Wei-Wei
    Li, Tian-Fu
    Zhang, Cui
    Cui, Ying-Xia
    Li, Xiao-Jun
    Yin, Zhi-Min
    Xia, Xin-Yi
    PLOS ONE, 2014, 9 (06):
1234