Identification of two novel PAX6 gene mutations in patients with aniridia using SSCP and CFLP analyses.

被引:0
|
作者
Maddox, LO
Nowakowski, RW
Descartes, M
机构
[1] Univ Alabama, Med Genet Lab, Birmingham, AL 35294 USA
[2] Univ Alabama, Dept Optometry, Birmingham, AL 35294 USA
[3] Univ Alabama, Dept Pediat, Birmingham, AL 35294 USA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
1983
引用
收藏
页码:A339 / A339
页数:1
相关论文
共 50 条
  • [1] Novel PAX6 gene mutations in patients with aniridia in India
    Periasamy, S
    Neethirajan, G
    Krishnadas, SR
    Vijayalakshmi, P
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U943 - U943
  • [2] Mutations in the PAX6 gene in aniridia patients
    Gronskov, K
    Rosenberg, T
    Sand, A
    Brondum-Nielsen, K
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 115 - 115
  • [3] ISOLATED ANIRIDIA: THE IDENTIFICATION OF FOUR NOVEL MUTATIONS IN THE PAX6 GENE
    Rudkin, Adam
    Burdon, Kathryn
    Laurie, Kate
    Piseth, Horm
    Edussuriya, Kapila
    Craig, Jamie
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2010, 38 : 69 - 69
  • [4] Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia
    Saunders, GF
    Chao, LY
    HUMAN MUTATION, 1998, : S207 - S208
  • [5] Novel mutations of the PAX6 gene identified in Chinese patients with aniridia
    Wang, Panfeng
    Guo, Xiangming
    Jia, Xiaoyun
    Li, Shiqiang
    Xiao, Xueshan
    Zhang, Qingjiong
    MOLECULAR VISION, 2006, 12 (72): : 644 - 648
  • [6] Three novel mutations of the PAX6 gene in Japanese aniridia patients
    Kawano, Toshio
    Wang, Chunxia
    Hotta, Yoshihiro
    Sato, Miho
    Iwata-Amano, Emi
    Hikoya, Akiko
    Fujita, Naoya
    Koyama, Norihisa
    Shirai, Shoichiro
    Azuma, Noriyuki
    Ohtsubo, Masafumi
    Shimizu, Nobuyoshi
    Minoshima, Shinsei
    JOURNAL OF HUMAN GENETICS, 2007, 52 (07) : 571 - 574
  • [7] Three novel mutations of the PAX6 gene in Japanese aniridia patients
    Toshio Kawano
    Chunxia Wang
    Yoshihiro Hotta
    Miho Sato
    Emi Iwata-Amano
    Akiko Hikoya
    Naoya Fujita
    Norihisa Koyama
    Shoichiro Shirai
    Noriyuki Azuma
    Masafumi Ohtsubo
    Nobuyoshi Shimizu
    Shinsei Minoshima
    Journal of Human Genetics, 2007, 52 : 571 - 574
  • [8] Analysis of aniridia patients for mutations in the PAX6 gene
    M. Wolf
    B. Zabel
    B. Lorenz
    A. Blankenagel
    M. B. Ghorbani
    O. Schwenn
    G. Wildhardt
    Der Ophthalmologe, 1998, 95 : 828 - 830
  • [9] Analysis of aniridia patients for mutations in the PAX6 gene
    Wolf, M
    Zabel, B
    Lorenz, B
    Blankenagel, A
    Ghorbani, MB
    Schwenn, O
    Wildhardt, G
    OPHTHALMOLOGE, 1998, 95 (12): : 828 - 830
  • [10] MUTATIONS IN THE PAX6 GENE IN PATIENTS WITH HEREDITARY ANIRIDIA
    DAVIS, A
    COWELL, JK
    HUMAN MOLECULAR GENETICS, 1993, 2 (12) : 2093 - 2097