Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

被引：39
|
作者：
Halliday, DJ
Hutchinson, S
Lonie, L
Hurst, JA
Firth, H
Handford, PA
Wordsworth, P
机构：
[1] Churchill Hosp, Dept Clin Genet, Oxford OX3 7IJ, England
[2] Univ Oxford, Dept Biochem, Div Mol & Cellular Biochem, Oxford OX1 3QU, England
[3] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
[4] Univ Cambridge, Dept Med Genet, Cambridge CB2 2QQ, England
来源：
JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 08期
关键词：
D O I：
10.1136/jmg.39.8.589
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：589 / 593
页数：5
相关论文
共 50 条
  • [1] FBN1 mutation screening of patients with Marfan syndrome and related disorders:: detection of 46 novel FBN1 mutations
    Attanasio, M.
    Lapini, I.
    Evangelisti, L.
    Lucarini, L.
    Giusti, B.
    Porciani, M. C.
    Fattori, R.
    Anichini, C.
    Abbate, R.
    Gensini, G. F.
    Pepe, G.
    CLINICAL GENETICS, 2008, 74 (01) : 39 - 46
  • [2] Marfan syndrome with a homozygous FBN1 splicing mutation
    Lu, Xin-Xin
    Xie, Qi
    Wang, Ren
    Zhang, Biao
    Guo, Dan-Dan
    Huang, Xiao-Li
    Chen, Xi-Jun
    Wu, Yan-An
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (09) : 2435 - 2438
  • [3] Marfan syndrome: new mutations of the FBN1 gene
    Munoz Sandoval, Juan
    Saldarriaga-Gil, Wilmar
    Isaza de Lourido, Carolina
    IATREIA, 2014, 27 (02) : 206 - 215
  • [4] FBN1 mutation affects survival in Marfan syndrome
    Gregory B. Lim
    Nature Reviews Cardiology, 2016, 13 (3) : 123 - 123
  • [5] A novel FBN1 mutation causes autosomal dominant Marfan syndrome
    Xiao, Ying
    Liu, Xiaoqi
    Guo, Xiaoxin
    Liu, Liping
    Jiang, Linxin
    Wang, Qi
    Gong, Bo
    MOLECULAR MEDICINE REPORTS, 2017, 16 (05) : 7321 - 7328
  • [6] Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome
    Wang, Yueli
    Li, Xiaoyan
    Li, Rongjuan
    Yang, Ya
    Du, Jie
    INTERNATIONAL JOURNAL OF GENOMICS, 2018, 2018
  • [7] Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome
    Jaradat, Saied A.
    Abujamous, Lama A.
    Al-Hawamdeh, Ali A.
    Alawneh, Khaldoon M.
    Rawashdeh, Tamara A.
    Jaradat, Zaher M.
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2015, 8 (10): : 18786 - 18792
  • [8] Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome
    Abujamous
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 870 - 871
  • [9] Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome
    Jin’e Wang
    Yupeng Yan
    Jinxing Chen
    Ling Gong
    Yu Zhang
    Mengmeng Yuan
    Bing Cui
    Yibo Wang
    Molecular Biology Reports, 2016, 43 : 1227 - 1232
  • [10] A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
    Torrado, Mario
    Maneiro, Emilia
    Trujillo-Quintero, Juan Pablo
    Evangelista, Arturo
    Mikhailov, Alexander T.
    Monserrat, Lorenzo
    BIOMED RESEARCH INTERNATIONAL, 2018, 2018
12345