Fibrillin-1 gene mutations are predictors of marfan syndrome

被引:0
|
作者
Zhang, Lin [1 ,2 ,3 ,4 ,5 ]
Zhou, Xianliang [1 ,2 ,3 ,4 ,5 ]
Gao, Linggen [1 ,2 ,3 ,4 ,5 ]
Hui, Rutai [1 ,2 ,3 ,4 ,5 ]
机构
[1] CAMS, Key Lab Clin Cardiovasc Genet, Beijing 100037, Peoples R China
[2] CAMS, Sino German Lab Mol Med, Beijing 100037, Peoples R China
[3] CAMS, Div Hypertens, Cardiovasc Inst, Beijing 100037, Peoples R China
[4] CAMS, Fu Wai Hosp, Beijing 100037, Peoples R China
[5] PUMC, Beijing 100037, Peoples R China
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:53 / 54
页数:2
相关论文
共 50 条
  • [1] Novel frameshift mutations in fibrillin-1 gene causing Marfan syndrome
    Gusina, A.
    Miasnikov, S.
    Gusina, N.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 914 - 914
  • [2] Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome
    Oh, MR
    Kim, JS
    Beck, NS
    Lee, HJ
    Kohsaka, T
    Jin, DK
    PEDIATRICS INTERNATIONAL, 2000, 42 (05) : 488 - 491
  • [3] Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome
    Ivan F.M. LO
    Rosanna M.S. WONG
    Fanny W.F. LAM
    Tony M.F. TONG and Stephen T.S. LAM
    Chinese Medical Journal, 2001, (05)
  • [4] Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome
    Lo, IFM
    Wong, RMS
    Lam, FWF
    Tong, TMF
    Lam, STS
    CHINESE MEDICAL JOURNAL, 2001, 114 (05) : 473 - 476
  • [6] Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
    Hung, Chia-Cheng
    Lin, Shin-Yu
    Lee, Chien-Nan
    Cheng, Hui-Yu
    Lin, Chiou-Ya
    Chang, Chien-Hui
    Chiu, Hsin-Hui
    Yu, Chih-Chieh
    Lin, Shuan-Pei
    Cheng, Wen-Fang
    Ho, Hong-Nerng
    Niu, Dau-Ming
    Su, Yi-Ning
    ANALYTICAL BIOCHEMISTRY, 2009, 389 (02) : 102 - 106
  • [7] Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
    Hayward, C
    Brock, DJH
    HUMAN MUTATION, 1997, 10 (06) : 415 - 423
  • [8] MUTATIONS IN THE HUMAN GENE FOR FIBRILLIN-1 (FBN1) IN THE MARFAN-SYNDROME AND RELATED DISORDERS
    DIETZ, HC
    PYERITZ, RE
    HUMAN MOLECULAR GENETICS, 1995, 4 : 1799 - 1809
  • [9] Identification of a fibrillin-1 gene mutation in a Chinese Marfan syndrome family
    Peng Fan
    Sufang Hao
    Kunqi Yang
    Peipei Lu
    Ying Zhang
    Xu Meng
    Xianliang Zhou
    中国循环杂志, 2018, (S1) : 140 - 141
  • [10] Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype
    Gao Ling-gen
    Zhang Lin
    Song Lei
    Wang Hu
    Chang Qian
    Wu Yong-bo
    Hui Ru-tai
    Zhou Xian-liang
    CHINESE MEDICAL JOURNAL, 2010, 123 (20) : 2874 - 2878